Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.84536080A>G , CM000673.2:g.84536080A>G	GRCh38
NC_000011.9:g.84247123A>G , CM000673.1:g.84247123A>G	GRCh37
NC_000011.8:g.83924771A>G	NCBI36
NG_021375.1:g.1096192T>C
NG_021375.2:g.1097456T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527088.2:c.106-1349T>C	ENSP00000435809.2:n.106-1349T>C
ENST00000705960.1:n.715-1349T>C
ENST00000706006.1:c.469-1349T>C	ENSP00000516200.1:n.469-1349T>C
ENST00000706007.1:c.*272-1349T>C	ENSP00000516201.1:n.*272-1349T>C
ENST00000706226.1:c.394-1349T>C	ENSP00000516284.1:n.394-1349T>C
ENST00000706233.1:c.394-1352T>C	ENSP00000516288.1:n.394-1352T>C
ENST00000706244.1:n.45-1349T>C
ENST00000706266.1:c.103-1349T>C	ENSP00000516312.1:n.103-1349T>C
ENST00000706267.1:c.103-1349T>C	ENSP00000516313.1:n.103-1349T>C
ENST00000376104.7:c.358-1349T>C MANE Select	ENSP00000365272.2:n.358-1349T>C
ENST00000648622.1:c.103-1349T>C	ENSP00000497475.1:n.103-1349T>C
ENST00000650630.1:c.469-1349T>C	ENSP00000497771.1:n.469-1349T>C
ENST00000376104.6:c.358-1349T>C	ENSP00000365272.2:n.358-1349T>C
ENST00000398309.6:c.43-1349T>C	ENSP00000381355.2:n.43-1349T>C
ENST00000524982.5:c.43-1349T>C	ENSP00000432894.1:n.43-1349T>C
ENST00000527088.1:c.106-1349T>C	ENSP00000435809.1:n.106-1349T>C
ENST00000529111.5:n.321-1349T>C
ENST00000532653.5:c.43-1349T>C	ENSP00000435849.1:n.43-1349T>C
NM_001142699.1:c.358-1349T>C	NP_001136171.1:n.358-1349T>C
NM_001300983.1:c.43-1349T>C	NP_001287912.1:n.43-1349T>C
NM_001364.3:c.43-1349T>C	NP_001355.2:n.43-1349T>C
XM_005273806.2:c.103-1349T>C	XP_005273863.1:n.103-1349T>C
XM_011544778.1:c.508-1349T>C	XP_011543080.1:n.508-1349T>C
XM_011544779.1:c.469-1349T>C	XP_011543081.1:n.469-1349T>C
XM_011544780.1:c.508-1349T>C	XP_011543082.1:n.508-1349T>C
XM_011544781.1:c.433-1349T>C	XP_011543083.1:n.433-1349T>C
XM_011544782.1:c.106-1349T>C	XP_011543084.1:n.106-1349T>C
XM_011544783.1:c.103-1352T>C	XP_011543085.1:n.103-1352T>C
XM_011544784.1:c.43-1352T>C	XP_011543086.1:n.43-1352T>C
XM_011544785.1:c.31-1349T>C	XP_011543087.1:n.31-1349T>C
XM_011544786.1:c.508-1349T>C	XP_011543088.1:n.508-1349T>C
NM_001351274.1:c.394-1349T>C	NP_001338203.1:n.394-1349T>C
NM_001351275.1:c.394-1352T>C	NP_001338204.1:n.394-1352T>C
NM_001351276.1:c.103-1352T>C	NP_001338205.1:n.103-1352T>C
XM_011544778.3:c.508-1349T>C	XP_011543080.1:n.508-1349T>C
XM_011544780.3:c.508-1349T>C	XP_011543082.1:n.508-1349T>C
XM_011544782.2:c.106-1349T>C	XP_011543084.1:n.106-1349T>C
XM_017017254.2:c.508-1349T>C	XP_016872743.1:n.508-1349T>C
XM_017017255.2:c.469-1349T>C	XP_016872744.1:n.469-1349T>C
XM_017017256.2:c.469-1349T>C	XP_016872745.1:n.469-1349T>C
XM_017017257.2:c.469-1352T>C	XP_016872746.1:n.469-1352T>C
XM_017017258.1:c.346-1349T>C	XP_016872747.1:n.346-1349T>C
XM_017017261.2:c.508-1349T>C	XP_016872750.1:n.508-1349T>C
XM_017017263.1:c.106-1349T>C	XP_016872752.1:n.106-1349T>C
XM_017017264.2:c.103-1349T>C	XP_016872753.1:n.103-1349T>C
XM_017017265.2:c.103-1352T>C	XP_016872754.1:n.103-1352T>C
XM_017017267.1:c.43-1349T>C	XP_016872756.1:n.43-1349T>C
XM_017017268.1:c.43-1352T>C	XP_016872757.1:n.43-1352T>C
XM_017017269.1:c.31-1349T>C	XP_016872758.1:n.31-1349T>C
XM_017017270.1:c.106-1349T>C	XP_016872759.1:n.106-1349T>C
XM_017017271.2:c.103-1349T>C	XP_016872760.1:n.103-1349T>C
XM_017017274.1:c.43-1349T>C	XP_016872763.1:n.43-1349T>C
XM_017017276.1:c.31-1349T>C	XP_016872765.1:n.31-1349T>C
XM_017017279.1:c.106-1349T>C	XP_016872768.1:n.106-1349T>C
XM_017017280.2:c.106-1352T>C	XP_016872769.1:n.106-1352T>C
XM_017017281.2:c.103-1349T>C	XP_016872770.1:n.103-1349T>C
XM_017017285.1:c.31-1349T>C	XP_016872774.1:n.31-1349T>C
XM_024448378.1:c.394-1349T>C	XP_024304146.1:n.394-1349T>C
XM_024448379.1:c.394-1352T>C	XP_024304147.1:n.394-1352T>C
NM_001351274.2:c.394-1349T>C	NP_001338203.1:n.394-1349T>C
NM_001351276.2:c.103-1352T>C	NP_001338205.1:n.103-1352T>C
NM_001142699.3:c.358-1349T>C MANE Select	NP_001136171.1:n.358-1349T>C
NM_001351275.2:c.394-1352T>C	NP_001338204.1:n.394-1352T>C
NM_001377968.1:c.43-1349T>C	NP_001364897.1:n.43-1349T>C

Linked Data

Genomic Alleles

Transcript Alleles