Canonical Allele Identifier: CA390746258

Gene: GALC

Linked Data

• dbSNP Id: rs1391716085
• gnomAD v4: 14-87945695-G-T
• MyVariant Identifiers: chr14:g.88412039G>T (hg19) ; chr14:g.87945695G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945695G>T , CM000676.2:g.87945695G>T	GRCh38
NC_000014.8:g.88412039G>T , CM000676.1:g.88412039G>T	GRCh37
NC_000014.7:g.87481792G>T	NCBI36
NG_011853.2:g.52869C>A
NG_011853.3:g.52869C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1528C>A MANE Select	ENSP00000261304.2:p.Gln510Lys
ENST00000261304.6:c.1528C>A	ENSP00000261304.2:p.Gln510Lys
ENST00000393568.8:c.1459C>A	ENSP00000377198.4:p.Gln487Lys
ENST00000393569.6:c.1450C>A	ENSP00000377199.2:p.Gln484Lys
ENST00000544807.6:c.1360C>A	ENSP00000437513.2:p.Gln454Lys
ENST00000555000.5:c.895C>A	ENSP00000450472.1:p.Gln299Lys
ENST00000555179.1:c.206+2033C>A
ENST00000557316.5:c.*926C>A	ENSP00000452314.1:n.*926C>A
NM_000153.3:c.1528C>A	NP_000144.2:p.Gln510Lys
NM_001201401.1:c.1459C>A	NP_001188330.1:p.Gln487Lys
NM_001201402.1:c.1450C>A	NP_001188331.1:p.Gln484Lys
XM_011536618.1:c.1360C>A	XP_011534920.1:p.Gln454Lys
XM_011536618.2:c.1360C>A	XP_011534920.1:p.Gln454Lys
NM_000153.4:c.1528C>A MANE Select	NP_000144.2:p.Gln510Lys
NM_001201401.2:c.1459C>A	NP_001188330.1:p.Gln487Lys
NM_001201402.2:c.1450C>A	NP_001188331.1:p.Gln484Lys