Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104185011C>T , CM000672.2:g.104185011C>T	GRCh38
NC_000010.10:g.105944769C>T , CM000672.1:g.105944769C>T	GRCh37
NC_000010.9:g.105934759C>T	NCBI36
NG_051581.1:g.52367G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025145.7:c.2141+5G>A MANE Select	NP_079421.5:n.2141+5G>A
ENST00000357060.8:c.2141+5G>A MANE Select	ENSP00000349568.3:n.2141+5G>A
NM_025145.5:c.2141+5G>A	NP_079421.5:n.2141+5G>A
NM_025145.6:c.2141+5G>A	NP_079421.5:n.2141+5G>A
ENST00000278064.6:c.1934+5G>A	ENSP00000278064.2:n.1934+5G>A
ENST00000278064.7:c.2144+5G>A	ENSP00000278064.3:n.2144+5G>A
ENST00000357060.7:c.2141+5G>A	ENSP00000349568.3:n.2141+5G>A
ENST00000434629.5:c.223+5G>A
XM_005270171.1:c.2144+5G>A	XP_005270228.1:n.2144+5G>A
XM_005270171.2:c.2144+5G>A	XP_005270228.1:n.2144+5G>A
XM_005270172.2:c.2144+5G>A	XP_005270229.1:n.2144+5G>A
XM_005270172.3:c.2144+5G>A	XP_005270229.1:n.2144+5G>A
XM_011540196.1:c.2144+5G>A	XP_011538498.1:n.2144+5G>A
XM_011540196.2:c.2144+5G>A	XP_011538498.1:n.2144+5G>A
XM_011540197.1:c.2144+5G>A	XP_011538499.1:n.2144+5G>A
XM_011540197.2:c.2144+5G>A	XP_011538499.1:n.2144+5G>A
XM_011540198.1:c.2027+5G>A	XP_011538500.1:n.2027+5G>A
XM_011540198.2:c.2027+5G>A	XP_011538500.1:n.2027+5G>A
XM_011540199.1:c.2144+5G>A	XP_011538501.1:n.2144+5G>A
XM_011540199.2:c.2144+5G>A	XP_011538501.1:n.2144+5G>A
XM_011540200.1:c.2144+5G>A	XP_011538502.1:n.2144+5G>A
XM_011540200.2:c.2144+5G>A	XP_011538502.1:n.2144+5G>A
XM_011540201.1:c.2144+5G>A	XP_011538503.1:n.2144+5G>A
XM_011540201.2:c.2144+5G>A	XP_011538503.1:n.2144+5G>A
XM_011540202.1:c.1373+5G>A	XP_011538504.1:n.1373+5G>A
XM_011540202.2:c.1373+5G>A	XP_011538504.1:n.1373+5G>A
XM_011540203.1:c.-85G>A	XP_011538505.1:n.-85G>A
XM_017016681.1:c.2141+5G>A	XP_016872170.1:n.2141+5G>A
XM_017016682.1:c.2027+5G>A	XP_016872171.1:n.2027+5G>A
XM_017016684.1:c.2144+5G>A	XP_016872173.1:n.2144+5G>A
XM_024448177.1:c.530+5G>A	XP_024303945.1:n.530+5G>A
XM_024448178.1:c.-85G>A	XP_024303946.1:n.-85G>A
XR_002957015.1:n.2027+5G>A