Canonical Allele Identifier: CA390749404

Gene: GALC

Linked Data

• dbSNP Id: rs1282865033
• gnomAD v2: 14-88442739-G-A
• gnomAD v3: 14-87976395-G-A
• gnomAD v4: 14-87976395-G-A
• MyVariant Identifiers: chr14:g.88442739G>A (hg19) ; chr14:g.87976395G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976395G>A , CM000676.2:g.87976395G>A	GRCh38
NC_000014.8:g.88442739G>A , CM000676.1:g.88442739G>A	GRCh37
NC_000014.7:g.87512492G>A	NCBI36
NG_011853.2:g.22169C>T
NG_011853.3:g.22169C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.715C>T MANE Select	ENSP00000261304.2:p.Leu239Phe
ENST00000261304.6:c.715C>T	ENSP00000261304.2:p.Leu239Phe
ENST00000393568.8:c.646C>T	ENSP00000377198.4:p.Leu216Phe
ENST00000393569.6:c.637C>T	ENSP00000377199.2:p.Leu213Phe
ENST00000474294.6:n.705C>T
ENST00000477716.3:n.470C>T
ENST00000544807.6:c.547C>T	ENSP00000437513.2:p.Leu183Phe
ENST00000554916.5:n.594C>T
ENST00000555000.5:c.82C>T	ENSP00000450472.1:p.Leu28Phe
ENST00000557316.5:c.*113C>T	ENSP00000452314.1:n.*113C>T
ENST00000622264.4:c.705C>T
NM_000153.3:c.715C>T	NP_000144.2:p.Leu239Phe
NM_001201401.1:c.646C>T	NP_001188330.1:p.Leu216Phe
NM_001201402.1:c.637C>T	NP_001188331.1:p.Leu213Phe
XM_011536618.1:c.547C>T	XP_011534920.1:p.Leu183Phe
XM_011536618.2:c.547C>T	XP_011534920.1:p.Leu183Phe
NM_000153.4:c.715C>T MANE Select	NP_000144.2:p.Leu239Phe
NM_001201401.2:c.646C>T	NP_001188330.1:p.Leu216Phe
NM_001201402.2:c.637C>T	NP_001188331.1:p.Leu213Phe