Canonical Allele Identifier: CA487366247

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442746G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976402G>C , CM000676.2:g.87976402G>C	GRCh38
NC_000014.8:g.88442746G>C , CM000676.1:g.88442746G>C	GRCh37
NC_000014.7:g.87512499G>C	NCBI36
NG_011853.2:g.22162C>G
NG_011853.3:g.22162C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.708C>G MANE Select	ENSP00000261304.2:p.Ser236=
ENST00000261304.6:c.708C>G	ENSP00000261304.2:p.Ser236=
ENST00000393568.8:c.639C>G	ENSP00000377198.4:p.Ser213=
ENST00000393569.6:c.630C>G	ENSP00000377199.2:p.Ser210=
ENST00000474294.6:n.698C>G
ENST00000477716.3:n.463C>G
ENST00000544807.6:c.540C>G	ENSP00000437513.2:p.Ser180=
ENST00000554916.5:n.587C>G
ENST00000555000.5:c.75C>G	ENSP00000450472.1:p.Ser25=
ENST00000557316.5:c.*106C>G	ENSP00000452314.1:n.*106C>G
ENST00000622264.4:c.698C>G
NM_000153.3:c.708C>G	NP_000144.2:p.Ser236=
NM_001201401.1:c.639C>G	NP_001188330.1:p.Ser213=
NM_001201402.1:c.630C>G	NP_001188331.1:p.Ser210=
XM_011536618.1:c.540C>G	XP_011534920.1:p.Ser180=
XM_011536618.2:c.540C>G	XP_011534920.1:p.Ser180=
NM_000153.4:c.708C>G MANE Select	NP_000144.2:p.Ser236=
NM_001201401.2:c.639C>G	NP_001188330.1:p.Ser213=
NM_001201402.2:c.630C>G	NP_001188331.1:p.Ser210=