Canonical Allele Identifier: CA264711077

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984416T>A , CM000676.2:g.87984416T>A	GRCh38
NC_000014.8:g.88450760T>A , CM000676.1:g.88450760T>A	GRCh37
NC_000014.7:g.87520513T>A	NCBI36
NG_011853.2:g.14148A>T
NG_011853.3:g.14148A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.560A>T MANE Select	NP_000144.2:p.Asp187Val
ENST00000261304.7:c.560A>T MANE Select	ENSP00000261304.2:p.Asp187Val
NM_000153.3:c.560A>T	NP_000144.2:p.Asp187Val
NM_001201401.1:c.491A>T	NP_001188330.1:p.Asp164Val
NM_001201401.2:c.491A>T	NP_001188330.1:p.Asp164Val
NM_001201402.1:c.482A>T	NP_001188331.1:p.Asp161Val
NM_001201402.2:c.482A>T	NP_001188331.1:p.Asp161Val
ENST00000261304.6:c.560A>T	ENSP00000261304.2:p.Asp187Val
ENST00000393568.8:c.491A>T	ENSP00000377198.4:p.Asp164Val
ENST00000393569.6:c.482A>T	ENSP00000377199.2:p.Asp161Val
ENST00000474294.6:n.550A>T
ENST00000544807.6:c.392A>T	ENSP00000437513.2:p.Asp131Val
ENST00000554372.5:c.*309A>T	ENSP00000451884.1:n.*309A>T
ENST00000554916.5:n.439A>T
ENST00000556261.5:n.261A>T
ENST00000557316.5:c.560A>T	ENSP00000452314.1:p.Asp187Val
ENST00000622264.4:c.550A>T
XM_011536618.1:c.392A>T	XP_011534920.1:p.Asp131Val
XM_011536618.2:c.392A>T	XP_011534920.1:p.Asp131Val