Canonical Allele Identifier: CA390749349

Gene: GALC

Linked Data

• gnomAD v4: 14-87976383-G-A
• MyVariant Identifiers: chr14:g.88442727G>A (hg19) ; chr14:g.87976383G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976383G>A , CM000676.2:g.87976383G>A	GRCh38
NC_000014.8:g.88442727G>A , CM000676.1:g.88442727G>A	GRCh37
NC_000014.7:g.87512480G>A	NCBI36
NG_011853.2:g.22181C>T
NG_011853.3:g.22181C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.727C>T MANE Select	ENSP00000261304.2:p.Leu243Phe
ENST00000261304.6:c.727C>T	ENSP00000261304.2:p.Leu243Phe
ENST00000393568.8:c.658C>T	ENSP00000377198.4:p.Leu220Phe
ENST00000393569.6:c.649C>T	ENSP00000377199.2:p.Leu217Phe
ENST00000474294.6:n.717C>T
ENST00000477716.3:n.482C>T
ENST00000544807.6:c.559C>T	ENSP00000437513.2:p.Leu187Phe
ENST00000554916.5:n.606C>T
ENST00000555000.5:c.94C>T	ENSP00000450472.1:p.Leu32Phe
ENST00000557316.5:c.*125C>T	ENSP00000452314.1:n.*125C>T
ENST00000622264.4:c.717C>T
NM_000153.3:c.727C>T	NP_000144.2:p.Leu243Phe
NM_001201401.1:c.658C>T	NP_001188330.1:p.Leu220Phe
NM_001201402.1:c.649C>T	NP_001188331.1:p.Leu217Phe
XM_011536618.1:c.559C>T	XP_011534920.1:p.Leu187Phe
XM_011536618.2:c.559C>T	XP_011534920.1:p.Leu187Phe
NM_000153.4:c.727C>T MANE Select	NP_000144.2:p.Leu243Phe
NM_001201401.2:c.658C>T	NP_001188330.1:p.Leu220Phe
NM_001201402.2:c.649C>T	NP_001188331.1:p.Leu217Phe