Canonical Allele Identifier: CA2153386599

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986564C= , CM000676.2:g.87986564C=	GRCh38
NC_000014.8:g.88452908C= , CM000676.1:g.88452908C=	GRCh37
NC_000014.7:g.87522661C=	NCBI36
NG_011853.2:g.12000G=
NG_011853.3:g.12000G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.367G= MANE Select	ENSP00000261304.2:p.Glu123=
ENST00000261304.6:c.367G=	ENSP00000261304.2:p.Glu123=
ENST00000393568.8:c.298G=	ENSP00000377198.4:p.Glu100=
ENST00000393569.6:c.289G=	ENSP00000377199.2:p.Glu97=
ENST00000474294.6:n.357G=
ENST00000544807.6:c.199G=	ENSP00000437513.2:p.Glu67=
ENST00000554372.5:c.*116G=	ENSP00000451884.1:n.*116G=
ENST00000554916.5:n.246G=
ENST00000556261.5:n.68G=
ENST00000556879.5:c.427G=	ENSP00000452208.1:n.427G=
ENST00000557316.5:c.367G=	ENSP00000452314.1:p.Glu123=
ENST00000622264.4:c.357G=
NM_000153.3:c.367G=	NP_000144.2:p.Glu123=
NM_001201401.1:c.298G=	NP_001188330.1:p.Glu100=
NM_001201402.1:c.289G=	NP_001188331.1:p.Glu97=
XM_011536618.1:c.199G=	XP_011534920.1:p.Glu67=
XM_011536618.2:c.199G=	XP_011534920.1:p.Glu67=
NM_000153.4:c.367G= MANE Select	NP_000144.2:p.Glu123=
NM_001201401.2:c.298G=	NP_001188330.1:p.Glu100=
NM_001201402.2:c.289G=	NP_001188331.1:p.Glu97=