Canonical Allele Identifier: CA2153387445

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87988478G= , CM000676.2:g.87988478G=	GRCh38
NC_000014.8:g.88454822G= , CM000676.1:g.88454822G=	GRCh37
NC_000014.7:g.87524575G=	NCBI36
NG_011853.2:g.10086C=
NG_011853.3:g.10086C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.241C= MANE Select	ENSP00000261304.2:p.Gln81=
ENST00000261304.6:c.241C=	ENSP00000261304.2:p.Gln81=
ENST00000393568.8:c.196-271C=	ENSP00000377198.4:n.196-271C=
ENST00000393569.6:c.163C=	ENSP00000377199.2:p.Gln55=
ENST00000474294.6:n.231C=
ENST00000544807.6:c.73C=	ENSP00000437513.2:p.Gln25=
ENST00000554372.5:c.241C=	ENSP00000451884.1:p.Gln81=
ENST00000554916.5:n.120C=
ENST00000555956.1:n.46C=
ENST00000556879.5:c.301C=	ENSP00000452208.1:n.301C=
ENST00000557316.5:c.241C=	ENSP00000452314.1:p.Gln81=
ENST00000622264.4:c.231C=
NM_000153.3:c.241C=	NP_000144.2:p.Gln81=
NM_001201401.1:c.196-271C=	NP_001188330.1:n.196-271C=
NM_001201402.1:c.163C=	NP_001188331.1:p.Gln55=
XM_011536618.1:c.73C=	XP_011534920.1:p.Gln25=
XM_011536618.2:c.73C=	XP_011534920.1:p.Gln25=
NM_000153.4:c.241C= MANE Select	NP_000144.2:p.Gln81=
NM_001201401.2:c.196-271C=	NP_001188330.1:n.196-271C=
NM_001201402.2:c.163C=	NP_001188331.1:p.Gln55=