Canonical Allele Identifier: CA487366297

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442797C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976453C>T , CM000676.2:g.87976453C>T	GRCh38
NC_000014.8:g.88442797C>T , CM000676.1:g.88442797C>T	GRCh37
NC_000014.7:g.87512550C>T	NCBI36
NG_011853.2:g.22111G>A
NG_011853.3:g.22111G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.657G>A MANE Select	ENSP00000261304.2:p.Gln219=
ENST00000261304.6:c.657G>A	ENSP00000261304.2:p.Gln219=
ENST00000393568.8:c.588G>A	ENSP00000377198.4:p.Gln196=
ENST00000393569.6:c.579G>A	ENSP00000377199.2:p.Gln193=
ENST00000474294.6:n.647G>A
ENST00000477716.3:n.412G>A
ENST00000544807.6:c.489G>A	ENSP00000437513.2:p.Gln163=
ENST00000554916.5:n.536G>A
ENST00000555000.5:c.24G>A	ENSP00000450472.1:p.Gln8=
ENST00000557316.5:c.*55G>A	ENSP00000452314.1:n.*55G>A
ENST00000622264.4:c.647G>A
NM_000153.3:c.657G>A	NP_000144.2:p.Gln219=
NM_001201401.1:c.588G>A	NP_001188330.1:p.Gln196=
NM_001201402.1:c.579G>A	NP_001188331.1:p.Gln193=
XM_011536618.1:c.489G>A	XP_011534920.1:p.Gln163=
XM_011536618.2:c.489G>A	XP_011534920.1:p.Gln163=
NM_000153.4:c.657G>A MANE Select	NP_000144.2:p.Gln219=
NM_001201401.2:c.588G>A	NP_001188330.1:p.Gln196=
NM_001201402.2:c.579G>A	NP_001188331.1:p.Gln193=