Canonical Allele Identifier: CA2153345228

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965592G= , CM000676.2:g.87965592G=	GRCh38
NC_000014.8:g.88431936G= , CM000676.1:g.88431936G=	GRCh37
NC_000014.7:g.87501689G=	NCBI36
NG_011853.2:g.32972C=
NG_011853.3:g.32972C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.946C= MANE Select	NP_000144.2:p.Gln316=
ENST00000261304.7:c.946C= MANE Select	ENSP00000261304.2:p.Gln316=
NM_000153.3:c.946C=	NP_000144.2:p.Gln316=
NM_001201401.1:c.877C=	NP_001188330.1:p.Gln293=
NM_001201401.2:c.877C=	NP_001188330.1:p.Gln293=
NM_001201402.1:c.868C=	NP_001188331.1:p.Gln290=
NM_001201402.2:c.868C=	NP_001188331.1:p.Gln290=
ENST00000261304.6:c.946C=	ENSP00000261304.2:p.Gln316=
ENST00000393568.8:c.877C=	ENSP00000377198.4:p.Gln293=
ENST00000393569.6:c.868C=	ENSP00000377199.2:p.Gln290=
ENST00000474294.6:n.936C=
ENST00000544807.6:c.778C=	ENSP00000437513.2:p.Gln260=
ENST00000555000.5:c.313C=	ENSP00000450472.1:p.Gln105=
ENST00000557316.5:c.*344C=	ENSP00000452314.1:n.*344C=
ENST00000557520.1:n.32C=
ENST00000622264.4:c.936C=
XM_011536618.1:c.778C=	XP_011534920.1:p.Gln260=
XM_011536618.2:c.778C=	XP_011534920.1:p.Gln260=