Canonical Allele Identifier: CA390749375

Gene: GALC

Linked Data

• dbSNP Id: rs1567000484
• gnomAD v4: 14-87976388-G-C
• MyVariant Identifiers: chr14:g.88442732G>C (hg19) ; chr14:g.87976388G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976388G>C , CM000676.2:g.87976388G>C	GRCh38
NC_000014.8:g.88442732G>C , CM000676.1:g.88442732G>C	GRCh37
NC_000014.7:g.87512485G>C	NCBI36
NG_011853.2:g.22176C>G
NG_011853.3:g.22176C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.722C>G MANE Select	ENSP00000261304.2:p.Ala241Gly
ENST00000261304.6:c.722C>G	ENSP00000261304.2:p.Ala241Gly
ENST00000393568.8:c.653C>G	ENSP00000377198.4:p.Ala218Gly
ENST00000393569.6:c.644C>G	ENSP00000377199.2:p.Ala215Gly
ENST00000474294.6:n.712C>G
ENST00000477716.3:n.477C>G
ENST00000544807.6:c.554C>G	ENSP00000437513.2:p.Ala185Gly
ENST00000554916.5:n.601C>G
ENST00000555000.5:c.89C>G	ENSP00000450472.1:p.Ala30Gly
ENST00000557316.5:c.*120C>G	ENSP00000452314.1:n.*120C>G
ENST00000622264.4:c.712C>G
NM_000153.3:c.722C>G	NP_000144.2:p.Ala241Gly
NM_001201401.1:c.653C>G	NP_001188330.1:p.Ala218Gly
NM_001201402.1:c.644C>G	NP_001188331.1:p.Ala215Gly
XM_011536618.1:c.554C>G	XP_011534920.1:p.Ala185Gly
XM_011536618.2:c.554C>G	XP_011534920.1:p.Ala185Gly
NM_000153.4:c.722C>G MANE Select	NP_000144.2:p.Ala241Gly
NM_001201401.2:c.653C>G	NP_001188330.1:p.Ala218Gly
NM_001201402.2:c.644C>G	NP_001188331.1:p.Ala215Gly