Canonical Allele Identifier: CA390752720

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88452917C>A (hg19) ; chr14:g.87986573C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986573C>A , CM000676.2:g.87986573C>A	GRCh38
NC_000014.8:g.88452917C>A , CM000676.1:g.88452917C>A	GRCh37
NC_000014.7:g.87522670C>A	NCBI36
NG_011853.2:g.11991G>T
NG_011853.3:g.11991G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.358G>T MANE Select	ENSP00000261304.2:p.Ala120Ser
ENST00000261304.6:c.358G>T	ENSP00000261304.2:p.Ala120Ser
ENST00000393568.8:c.289G>T	ENSP00000377198.4:p.Ala97Ser
ENST00000393569.6:c.280G>T	ENSP00000377199.2:p.Ala94Ser
ENST00000474294.6:n.348G>T
ENST00000544807.6:c.190G>T	ENSP00000437513.2:p.Ala64Ser
ENST00000554372.5:c.*107G>T	ENSP00000451884.1:n.*107G>T
ENST00000554916.5:n.237G>T
ENST00000556261.5:n.59G>T
ENST00000556879.5:c.418G>T	ENSP00000452208.1:n.418G>T
ENST00000557316.5:c.358G>T	ENSP00000452314.1:p.Ala120Ser
ENST00000622264.4:c.348G>T
NM_000153.3:c.358G>T	NP_000144.2:p.Ala120Ser
NM_001201401.1:c.289G>T	NP_001188330.1:p.Ala97Ser
NM_001201402.1:c.280G>T	NP_001188331.1:p.Ala94Ser
XM_011536618.1:c.190G>T	XP_011534920.1:p.Ala64Ser
XM_011536618.2:c.190G>T	XP_011534920.1:p.Ala64Ser
NM_000153.4:c.358G>T MANE Select	NP_000144.2:p.Ala120Ser
NM_001201401.2:c.289G>T	NP_001188330.1:p.Ala97Ser
NM_001201402.2:c.280G>T	NP_001188331.1:p.Ala94Ser