Canonical Allele Identifier: CA390745876

Gene: GALC

Linked Data

• dbSNP Id: rs1283585586
• gnomAD v2: 14-88407878-A-C
• MyVariant Identifiers: chr14:g.88407878A>C (hg19) ; chr14:g.87941534A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87941534A>C , CM000676.2:g.87941534A>C	GRCh38
NC_000014.8:g.88407878A>C , CM000676.1:g.88407878A>C	GRCh37
NC_000014.7:g.87477631A>C	NCBI36
NG_011853.2:g.57030T>G
NG_011853.3:g.57030T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1695T>G MANE Select	ENSP00000261304.2:p.Asp565Glu
ENST00000261304.6:c.1695T>G	ENSP00000261304.2:p.Asp565Glu
ENST00000393568.8:c.1626T>G	ENSP00000377198.4:p.Asp542Glu
ENST00000393569.6:c.1617T>G	ENSP00000377199.2:p.Asp539Glu
ENST00000544807.6:c.1527T>G	ENSP00000437513.2:p.Asp509Glu
ENST00000555000.5:c.1062T>G	ENSP00000450472.1:p.Asp354Glu
ENST00000555179.1:c.231T>G
ENST00000557316.5:c.*1093T>G	ENSP00000452314.1:n.*1093T>G
NM_000153.3:c.1695T>G	NP_000144.2:p.Asp565Glu
NM_001201401.1:c.1626T>G	NP_001188330.1:p.Asp542Glu
NM_001201402.1:c.1617T>G	NP_001188331.1:p.Asp539Glu
XM_011536618.1:c.1527T>G	XP_011534920.1:p.Asp509Glu
XM_011536618.2:c.1527T>G	XP_011534920.1:p.Asp509Glu
NM_000153.4:c.1695T>G MANE Select	NP_000144.2:p.Asp565Glu
NM_001201401.2:c.1626T>G	NP_001188330.1:p.Asp542Glu
NM_001201402.2:c.1617T>G	NP_001188331.1:p.Asp539Glu