Canonical Allele Identifier: CA487366292

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442791C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976447C>A , CM000676.2:g.87976447C>A	GRCh38
NC_000014.8:g.88442791C>A , CM000676.1:g.88442791C>A	GRCh37
NC_000014.7:g.87512544C>A	NCBI36
NG_011853.2:g.22117G>T
NG_011853.3:g.22117G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.663G>T MANE Select	ENSP00000261304.2:p.Val221=
ENST00000261304.6:c.663G>T	ENSP00000261304.2:p.Val221=
ENST00000393568.8:c.594G>T	ENSP00000377198.4:p.Val198=
ENST00000393569.6:c.585G>T	ENSP00000377199.2:p.Val195=
ENST00000474294.6:n.653G>T
ENST00000477716.3:n.418G>T
ENST00000544807.6:c.495G>T	ENSP00000437513.2:p.Val165=
ENST00000554916.5:n.542G>T
ENST00000555000.5:c.30G>T	ENSP00000450472.1:p.Val10=
ENST00000557316.5:c.*61G>T	ENSP00000452314.1:n.*61G>T
ENST00000622264.4:c.653G>T
NM_000153.3:c.663G>T	NP_000144.2:p.Val221=
NM_001201401.1:c.594G>T	NP_001188330.1:p.Val198=
NM_001201402.1:c.585G>T	NP_001188331.1:p.Val195=
XM_011536618.1:c.495G>T	XP_011534920.1:p.Val165=
XM_011536618.2:c.495G>T	XP_011534920.1:p.Val165=
NM_000153.4:c.663G>T MANE Select	NP_000144.2:p.Val221=
NM_001201401.2:c.594G>T	NP_001188330.1:p.Val198=
NM_001201402.2:c.585G>T	NP_001188331.1:p.Val195=