Canonical Allele Identifier: CA390745887

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88407882C>G (hg19) ; chr14:g.87941538C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87941538C>G , CM000676.2:g.87941538C>G	GRCh38
NC_000014.8:g.88407882C>G , CM000676.1:g.88407882C>G	GRCh37
NC_000014.7:g.87477635C>G	NCBI36
NG_011853.2:g.57026G>C
NG_011853.3:g.57026G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1691G>C MANE Select	ENSP00000261304.2:p.Cys564Ser
ENST00000261304.6:c.1691G>C	ENSP00000261304.2:p.Cys564Ser
ENST00000393568.8:c.1622G>C	ENSP00000377198.4:p.Cys541Ser
ENST00000393569.6:c.1613G>C	ENSP00000377199.2:p.Cys538Ser
ENST00000544807.6:c.1523G>C	ENSP00000437513.2:p.Cys508Ser
ENST00000555000.5:c.1058G>C	ENSP00000450472.1:p.Cys353Ser
ENST00000555179.1:c.227G>C
ENST00000557316.5:c.*1089G>C	ENSP00000452314.1:n.*1089G>C
NM_000153.3:c.1691G>C	NP_000144.2:p.Cys564Ser
NM_001201401.1:c.1622G>C	NP_001188330.1:p.Cys541Ser
NM_001201402.1:c.1613G>C	NP_001188331.1:p.Cys538Ser
XM_011536618.1:c.1523G>C	XP_011534920.1:p.Cys508Ser
XM_011536618.2:c.1523G>C	XP_011534920.1:p.Cys508Ser
NM_000153.4:c.1691G>C MANE Select	NP_000144.2:p.Cys564Ser
NM_001201401.2:c.1622G>C	NP_001188330.1:p.Cys541Ser
NM_001201402.2:c.1613G>C	NP_001188331.1:p.Cys538Ser