Canonical Allele Identifier: CA390746633

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88414199G>T (hg19) ; chr14:g.87947855G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947855G>T , CM000676.2:g.87947855G>T	GRCh38
NC_000014.8:g.88414199G>T , CM000676.1:g.88414199G>T	GRCh37
NC_000014.7:g.87483952G>T	NCBI36
NG_011853.2:g.50709C>A
NG_011853.3:g.50709C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1362C>A MANE Select	ENSP00000261304.2:p.Phe454Leu
ENST00000261304.6:c.1362C>A	ENSP00000261304.2:p.Phe454Leu
ENST00000393568.8:c.1293C>A	ENSP00000377198.4:p.Phe431Leu
ENST00000393569.6:c.1284C>A	ENSP00000377199.2:p.Phe428Leu
ENST00000544807.6:c.1194C>A	ENSP00000437513.2:p.Phe398Leu
ENST00000555000.5:c.729C>A	ENSP00000450472.1:p.Phe243Leu
ENST00000555179.1:c.79C>A
ENST00000557316.5:c.*760C>A	ENSP00000452314.1:n.*760C>A
NM_000153.3:c.1362C>A	NP_000144.2:p.Phe454Leu
NM_001201401.1:c.1293C>A	NP_001188330.1:p.Phe431Leu
NM_001201402.1:c.1284C>A	NP_001188331.1:p.Phe428Leu
XM_011536618.1:c.1194C>A	XP_011534920.1:p.Phe398Leu
XM_011536618.2:c.1194C>A	XP_011534920.1:p.Phe398Leu
NM_000153.4:c.1362C>A MANE Select	NP_000144.2:p.Phe454Leu
NM_001201401.2:c.1293C>A	NP_001188330.1:p.Phe431Leu
NM_001201402.2:c.1284C>A	NP_001188331.1:p.Phe428Leu