Canonical Allele Identifier: CA390746330

Gene: GALC

Linked Data

• gnomAD v4: 14-87945725-A-T
• MyVariant Identifiers: chr14:g.88412069A>T (hg19) ; chr14:g.87945725A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945725A>T , CM000676.2:g.87945725A>T	GRCh38
NC_000014.8:g.88412069A>T , CM000676.1:g.88412069A>T	GRCh37
NC_000014.7:g.87481822A>T	NCBI36
NG_011853.2:g.52839T>A
NG_011853.3:g.52839T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1498T>A MANE Select	ENSP00000261304.2:p.Phe500Ile
ENST00000261304.6:c.1498T>A	ENSP00000261304.2:p.Phe500Ile
ENST00000393568.8:c.1429T>A	ENSP00000377198.4:p.Phe477Ile
ENST00000393569.6:c.1420T>A	ENSP00000377199.2:p.Phe474Ile
ENST00000544807.6:c.1330T>A	ENSP00000437513.2:p.Phe444Ile
ENST00000555000.5:c.865T>A	ENSP00000450472.1:p.Phe289Ile
ENST00000555179.1:c.206+2003T>A
ENST00000557316.5:c.*896T>A	ENSP00000452314.1:n.*896T>A
NM_000153.3:c.1498T>A	NP_000144.2:p.Phe500Ile
NM_001201401.1:c.1429T>A	NP_001188330.1:p.Phe477Ile
NM_001201402.1:c.1420T>A	NP_001188331.1:p.Phe474Ile
XM_011536618.1:c.1330T>A	XP_011534920.1:p.Phe444Ile
XM_011536618.2:c.1330T>A	XP_011534920.1:p.Phe444Ile
NM_000153.4:c.1498T>A MANE Select	NP_000144.2:p.Phe500Ile
NM_001201401.2:c.1429T>A	NP_001188330.1:p.Phe477Ile
NM_001201402.2:c.1420T>A	NP_001188331.1:p.Phe474Ile