Canonical Allele Identifier: CA390747927

Gene: GALC

Linked Data

• dbSNP Id: rs1253723531
• gnomAD v3: 14-87968405-T-C
• gnomAD v4: 14-87968405-T-C
• MyVariant Identifiers: chr14:g.88434749T>C (hg19) ; chr14:g.87968405T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968405T>C , CM000676.2:g.87968405T>C	GRCh38
NC_000014.8:g.88434749T>C , CM000676.1:g.88434749T>C	GRCh37
NC_000014.7:g.87504502T>C	NCBI36
NG_011853.2:g.30159A>G
NG_011853.3:g.30159A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.838A>G MANE Select	ENSP00000261304.2:p.Asn280Asp
ENST00000261304.6:c.838A>G	ENSP00000261304.2:p.Asn280Asp
ENST00000393568.8:c.769A>G	ENSP00000377198.4:p.Asn257Asp
ENST00000393569.6:c.760A>G	ENSP00000377199.2:p.Asn254Asp
ENST00000474294.6:n.828A>G
ENST00000477716.3:n.593A>G
ENST00000544807.6:c.670A>G	ENSP00000437513.2:p.Asn224Asp
ENST00000555000.5:c.205A>G	ENSP00000450472.1:p.Asn69Asp
ENST00000557316.5:c.*236A>G	ENSP00000452314.1:n.*236A>G
ENST00000622264.4:c.828A>G
NM_000153.3:c.838A>G	NP_000144.2:p.Asn280Asp
NM_001201401.1:c.769A>G	NP_001188330.1:p.Asn257Asp
NM_001201402.1:c.760A>G	NP_001188331.1:p.Asn254Asp
XM_011536618.1:c.670A>G	XP_011534920.1:p.Asn224Asp
XM_011536618.2:c.670A>G	XP_011534920.1:p.Asn224Asp
NM_000153.4:c.838A>G MANE Select	NP_000144.2:p.Asn280Asp
NM_001201401.2:c.769A>G	NP_001188330.1:p.Asn257Asp
NM_001201402.2:c.760A>G	NP_001188331.1:p.Asn254Asp