Canonical Allele Identifier: CA390745883

Gene: GALC

Linked Data

• dbSNP Id: rs1393990784
• gnomAD v2: 14-88407880-C-T
• gnomAD v3: 14-87941536-C-T
• gnomAD v4: 14-87941536-C-T
• MyVariant Identifiers: chr14:g.88407880C>T (hg19) ; chr14:g.87941536C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87941536C>T , CM000676.2:g.87941536C>T	GRCh38
NC_000014.8:g.88407880C>T , CM000676.1:g.88407880C>T	GRCh37
NC_000014.7:g.87477633C>T	NCBI36
NG_011853.2:g.57028G>A
NG_011853.3:g.57028G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1693G>A MANE Select	ENSP00000261304.2:p.Asp565Asn
ENST00000261304.6:c.1693G>A	ENSP00000261304.2:p.Asp565Asn
ENST00000393568.8:c.1624G>A	ENSP00000377198.4:p.Asp542Asn
ENST00000393569.6:c.1615G>A	ENSP00000377199.2:p.Asp539Asn
ENST00000544807.6:c.1525G>A	ENSP00000437513.2:p.Asp509Asn
ENST00000555000.5:c.1060G>A	ENSP00000450472.1:p.Asp354Asn
ENST00000555179.1:c.229G>A
ENST00000557316.5:c.*1091G>A	ENSP00000452314.1:n.*1091G>A
NM_000153.3:c.1693G>A	NP_000144.2:p.Asp565Asn
NM_001201401.1:c.1624G>A	NP_001188330.1:p.Asp542Asn
NM_001201402.1:c.1615G>A	NP_001188331.1:p.Asp539Asn
XM_011536618.1:c.1525G>A	XP_011534920.1:p.Asp509Asn
XM_011536618.2:c.1525G>A	XP_011534920.1:p.Asp509Asn
NM_000153.4:c.1693G>A MANE Select	NP_000144.2:p.Asp565Asn
NM_001201401.2:c.1624G>A	NP_001188330.1:p.Asp542Asn
NM_001201402.2:c.1615G>A	NP_001188331.1:p.Asp539Asn