Canonical Allele Identifier: CA390752695

Gene: GALC

Linked Data

• gnomAD v4: 14-87986572-G-A
• MyVariant Identifiers: chr14:g.88452916G>A (hg19) ; chr14:g.87986572G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986572G>A , CM000676.2:g.87986572G>A	GRCh38
NC_000014.8:g.88452916G>A , CM000676.1:g.88452916G>A	GRCh37
NC_000014.7:g.87522669G>A	NCBI36
NG_011853.2:g.11992C>T
NG_011853.3:g.11992C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.359C>T MANE Select	ENSP00000261304.2:p.Ala120Val
ENST00000261304.6:c.359C>T	ENSP00000261304.2:p.Ala120Val
ENST00000393568.8:c.290C>T	ENSP00000377198.4:p.Ala97Val
ENST00000393569.6:c.281C>T	ENSP00000377199.2:p.Ala94Val
ENST00000474294.6:n.349C>T
ENST00000544807.6:c.191C>T	ENSP00000437513.2:p.Ala64Val
ENST00000554372.5:c.*108C>T	ENSP00000451884.1:n.*108C>T
ENST00000554916.5:n.238C>T
ENST00000556261.5:n.60C>T
ENST00000556879.5:c.419C>T	ENSP00000452208.1:n.419C>T
ENST00000557316.5:c.359C>T	ENSP00000452314.1:p.Ala120Val
ENST00000622264.4:c.349C>T
NM_000153.3:c.359C>T	NP_000144.2:p.Ala120Val
NM_001201401.1:c.290C>T	NP_001188330.1:p.Ala97Val
NM_001201402.1:c.281C>T	NP_001188331.1:p.Ala94Val
XM_011536618.1:c.191C>T	XP_011534920.1:p.Ala64Val
XM_011536618.2:c.191C>T	XP_011534920.1:p.Ala64Val
NM_000153.4:c.359C>T MANE Select	NP_000144.2:p.Ala120Val
NM_001201401.2:c.290C>T	NP_001188330.1:p.Ala97Val
NM_001201402.2:c.281C>T	NP_001188331.1:p.Ala94Val