Canonical Allele Identifier: CA3206973076

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947818T= , CM000676.2:g.87947818T=	GRCh38
NC_000014.8:g.88414162T= , CM000676.1:g.88414162T=	GRCh37
NC_000014.7:g.87483915T=	NCBI36
NG_011853.2:g.50746A=
NG_011853.3:g.50746A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1399A= MANE Select	NP_000144.2:p.Thr467=
ENST00000261304.7:c.1399A= MANE Select	ENSP00000261304.2:p.Thr467=
NM_000153.3:c.1399A=	NP_000144.2:p.Thr467=
NM_001201401.1:c.1330A=	NP_001188330.1:p.Thr444=
NM_001201401.2:c.1330A=	NP_001188330.1:p.Thr444=
NM_001201402.1:c.1321A=	NP_001188331.1:p.Thr441=
NM_001201402.2:c.1321A=	NP_001188331.1:p.Thr441=
ENST00000261304.6:c.1399A=	ENSP00000261304.2:p.Thr467=
ENST00000393568.8:c.1330A=	ENSP00000377198.4:p.Thr444=
ENST00000393569.6:c.1321A=	ENSP00000377199.2:p.Thr441=
ENST00000544807.6:c.1231A=	ENSP00000437513.2:p.Thr411=
ENST00000555000.5:c.766A=	ENSP00000450472.1:p.Thr256=
ENST00000555179.1:c.116A=
ENST00000557316.5:c.*797A=	ENSP00000452314.1:n.*797A=
XM_011536618.1:c.1231A=	XP_011534920.1:p.Thr411=
XM_011536618.2:c.1231A=	XP_011534920.1:p.Thr411=