Canonical Allele Identifier: CA390745889

Gene: GALC

Linked Data

• ClinVar Variation Id: 803041
• ClinVar RCV Id: RCV000989250
• dbSNP Id: rs1595190129
• MyVariant Identifiers: chr14:g.88407883A>C (hg19) ; chr14:g.87941539A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87941539A>C , CM000676.2:g.87941539A>C	GRCh38
NC_000014.8:g.88407883A>C , CM000676.1:g.88407883A>C	GRCh37
NC_000014.7:g.87477636A>C	NCBI36
NG_011853.2:g.57025T>G
NG_011853.3:g.57025T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1690T>G MANE Select	ENSP00000261304.2:p.Cys564Gly
ENST00000261304.6:c.1690T>G	ENSP00000261304.2:p.Cys564Gly
ENST00000393568.8:c.1621T>G	ENSP00000377198.4:p.Cys541Gly
ENST00000393569.6:c.1612T>G	ENSP00000377199.2:p.Cys538Gly
ENST00000544807.6:c.1522T>G	ENSP00000437513.2:p.Cys508Gly
ENST00000555000.5:c.1057T>G	ENSP00000450472.1:p.Cys353Gly
ENST00000555179.1:c.226T>G
ENST00000557316.5:c.*1088T>G	ENSP00000452314.1:n.*1088T>G
NM_000153.3:c.1690T>G	NP_000144.2:p.Cys564Gly
NM_001201401.1:c.1621T>G	NP_001188330.1:p.Cys541Gly
NM_001201402.1:c.1612T>G	NP_001188331.1:p.Cys538Gly
XM_011536618.1:c.1522T>G	XP_011534920.1:p.Cys508Gly
XM_011536618.2:c.1522T>G	XP_011534920.1:p.Cys508Gly
NM_000153.4:c.1690T>G MANE Select	NP_000144.2:p.Cys564Gly
NM_001201401.2:c.1621T>G	NP_001188330.1:p.Cys541Gly
NM_001201402.2:c.1612T>G	NP_001188331.1:p.Cys538Gly