Canonical Allele Identifier: CA2153385657

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984507G= , CM000676.2:g.87984507G=	GRCh38
NC_000014.8:g.88450851G= , CM000676.1:g.88450851G=	GRCh37
NC_000014.7:g.87520604G=	NCBI36
NG_011853.2:g.14057C=
NG_011853.3:g.14057C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.469C= MANE Select	ENSP00000261304.2:p.Leu157=
ENST00000261304.6:c.469C=	ENSP00000261304.2:p.Leu157=
ENST00000393568.8:c.400C=	ENSP00000377198.4:p.Leu134=
ENST00000393569.6:c.391C=	ENSP00000377199.2:p.Leu131=
ENST00000474294.6:n.459C=
ENST00000544807.6:c.301C=	ENSP00000437513.2:p.Leu101=
ENST00000554372.5:c.*218C=	ENSP00000451884.1:n.*218C=
ENST00000554916.5:n.348C=
ENST00000556261.5:n.170C=
ENST00000556879.5:c.529C=	ENSP00000452208.1:n.529C=
ENST00000557316.5:c.469C=	ENSP00000452314.1:p.Leu157=
ENST00000622264.4:c.459C=
NM_000153.3:c.469C=	NP_000144.2:p.Leu157=
NM_001201401.1:c.400C=	NP_001188330.1:p.Leu134=
NM_001201402.1:c.391C=	NP_001188331.1:p.Leu131=
XM_011536618.1:c.301C=	XP_011534920.1:p.Leu101=
XM_011536618.2:c.301C=	XP_011534920.1:p.Leu101=
NM_000153.4:c.469C= MANE Select	NP_000144.2:p.Leu157=
NM_001201401.2:c.400C=	NP_001188330.1:p.Leu134=
NM_001201402.2:c.391C=	NP_001188331.1:p.Leu131=