Canonical Allele Identifier: CA390753453

Gene: GALC

Linked Data

• gnomAD v4: 14-87988522-G-A
• MyVariant Identifiers: chr14:g.88454866G>A (hg19) ; chr14:g.87988522G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87988522G>A , CM000676.2:g.87988522G>A	GRCh38
NC_000014.8:g.88454866G>A , CM000676.1:g.88454866G>A	GRCh37
NC_000014.7:g.87524619G>A	NCBI36
NG_011853.2:g.10042C>T
NG_011853.3:g.10042C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.197C>T MANE Select	ENSP00000261304.2:p.Ala66Val
ENST00000261304.6:c.197C>T	ENSP00000261304.2:p.Ala66Val
ENST00000393568.8:c.196-315C>T	ENSP00000377198.4:n.196-315C>T
ENST00000393569.6:c.119C>T	ENSP00000377199.2:p.Ala40Val
ENST00000474294.6:n.187C>T
ENST00000544807.6:c.29C>T	ENSP00000437513.2:p.Ala10Val
ENST00000554372.5:c.197C>T	ENSP00000451884.1:p.Ala66Val
ENST00000554916.5:n.76C>T
ENST00000555956.1:n.2C>T
ENST00000556879.5:c.257C>T	ENSP00000452208.1:n.257C>T
ENST00000557316.5:c.197C>T	ENSP00000452314.1:p.Ala66Val
ENST00000622264.4:c.187C>T
NM_000153.3:c.197C>T	NP_000144.2:p.Ala66Val
NM_001201401.1:c.196-315C>T	NP_001188330.1:n.196-315C>T
NM_001201402.1:c.119C>T	NP_001188331.1:p.Ala40Val
XM_011536618.1:c.29C>T	XP_011534920.1:p.Ala10Val
XM_011536618.2:c.29C>T	XP_011534920.1:p.Ala10Val
NM_000153.4:c.197C>T MANE Select	NP_000144.2:p.Ala66Val
NM_001201401.2:c.196-315C>T	NP_001188330.1:n.196-315C>T
NM_001201402.2:c.119C>T	NP_001188331.1:p.Ala40Val