Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.108235921A>T , CM000674.2:g.108235921A>T	GRCh38
NC_000012.11:g.108629698A>T , CM000674.1:g.108629698A>T	GRCh37
NC_000012.10:g.107153828A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547525.6:c.1144+3026A>T MANE Select	ENSP00000448047.1:n.1144+3026A>T
ENST00000332082.8:c.1144+3026A>T	ENSP00000331933.4:n.1144+3026A>T
ENST00000547525.5:c.1144+3026A>T	ENSP00000448047.1:n.1144+3026A>T
ENST00000549903.1:c.1144+3026A>T	ENSP00000447272.1:n.1144+3026A>T
NM_001304447.1:c.1144+3026A>T	NP_001291376.1:n.1144+3026A>T
NM_014653.3:c.1144+3026A>T	NP_055468.2:n.1144+3026A>T
XM_011539015.1:c.1144+3026A>T	XP_011537317.1:n.1144+3026A>T
XM_011539016.1:c.1144+3026A>T	XP_011537318.1:n.1144+3026A>T
XM_011539017.1:c.1144+3026A>T	XP_011537319.1:n.1144+3026A>T
XM_011539018.1:c.1144+3026A>T	XP_011537320.1:n.1144+3026A>T
XM_011539019.1:c.1144+3026A>T	XP_011537321.1:n.1144+3026A>T
XM_011539020.1:c.1144+3026A>T	XP_011537322.1:n.1144+3026A>T
XM_011539021.1:c.1144+3026A>T	XP_011537323.1:n.1144+3026A>T
XM_011539022.1:c.844+3026A>T	XP_011537324.1:n.844+3026A>T
XR_944841.1:n.2436+3026A>T
XM_017020243.1:c.1144+3026A>T	XP_016875732.1:n.1144+3026A>T
XM_017020244.1:c.1144+3026A>T	XP_016875733.1:n.1144+3026A>T
XM_017020245.1:c.1144+3026A>T	XP_016875734.1:n.1144+3026A>T
XM_017020246.2:c.1144+3026A>T	XP_016875735.1:n.1144+3026A>T
XM_017020247.1:c.1144+3026A>T	XP_016875736.1:n.1144+3026A>T
XM_017020248.1:c.1144+3026A>T	XP_016875737.1:n.1144+3026A>T
XM_017020249.1:c.844+3026A>T	XP_016875738.1:n.844+3026A>T
XM_017020250.2:c.844+3026A>T	XP_016875739.1:n.844+3026A>T
XM_017020251.2:c.844+3026A>T	XP_016875740.1:n.844+3026A>T
XM_017020252.1:c.844+3026A>T	XP_016875741.1:n.844+3026A>T
XR_001748924.2:n.2055+3026A>T
XR_001748925.2:n.1807+3026A>T
XR_001748926.2:n.1755+3026A>T
XR_001749308.1:n.85-1549T>A
XR_001749309.1:n.82-1850T>A
XR_944841.2:n.2436+3026A>T
NM_014653.4:c.1144+3026A>T MANE Select	NP_055468.2:n.1144+3026A>T
NM_001304447.2:c.1144+3026A>T	NP_001291376.1:n.1144+3026A>T