Canonical Allele Identifier: CA487366303

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442803A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976459A>T , CM000676.2:g.87976459A>T	GRCh38
NC_000014.8:g.88442803A>T , CM000676.1:g.88442803A>T	GRCh37
NC_000014.7:g.87512556A>T	NCBI36
NG_011853.2:g.22105T>A
NG_011853.3:g.22105T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.651T>A MANE Select	ENSP00000261304.2:p.Gly217=
ENST00000261304.6:c.651T>A	ENSP00000261304.2:p.Gly217=
ENST00000393568.8:c.582T>A	ENSP00000377198.4:p.Gly194=
ENST00000393569.6:c.573T>A	ENSP00000377199.2:p.Gly191=
ENST00000474294.6:n.641T>A
ENST00000477716.3:n.406T>A
ENST00000544807.6:c.483T>A	ENSP00000437513.2:p.Gly161=
ENST00000554916.5:n.530T>A
ENST00000555000.5:c.18T>A	ENSP00000450472.1:p.Gly6=
ENST00000557316.5:c.*49T>A	ENSP00000452314.1:n.*49T>A
ENST00000622264.4:c.641T>A
NM_000153.3:c.651T>A	NP_000144.2:p.Gly217=
NM_001201401.1:c.582T>A	NP_001188330.1:p.Gly194=
NM_001201402.1:c.573T>A	NP_001188331.1:p.Gly191=
XM_011536618.1:c.483T>A	XP_011534920.1:p.Gly161=
XM_011536618.2:c.483T>A	XP_011534920.1:p.Gly161=
NM_000153.4:c.651T>A MANE Select	NP_000144.2:p.Gly217=
NM_001201401.2:c.582T>A	NP_001188330.1:p.Gly194=
NM_001201402.2:c.573T>A	NP_001188331.1:p.Gly191=