Canonical Allele Identifier: CA390749517

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442762T>A (hg19) ; chr14:g.87976418T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976418T>A , CM000676.2:g.87976418T>A	GRCh38
NC_000014.8:g.88442762T>A , CM000676.1:g.88442762T>A	GRCh37
NC_000014.7:g.87512515T>A	NCBI36
NG_011853.2:g.22146A>T
NG_011853.3:g.22146A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.692A>T MANE Select	ENSP00000261304.2:p.Glu231Val
ENST00000261304.6:c.692A>T	ENSP00000261304.2:p.Glu231Val
ENST00000393568.8:c.623A>T	ENSP00000377198.4:p.Glu208Val
ENST00000393569.6:c.614A>T	ENSP00000377199.2:p.Glu205Val
ENST00000474294.6:n.682A>T
ENST00000477716.3:n.447A>T
ENST00000544807.6:c.524A>T	ENSP00000437513.2:p.Glu175Val
ENST00000554916.5:n.571A>T
ENST00000555000.5:c.59A>T	ENSP00000450472.1:p.Glu20Val
ENST00000557316.5:c.*90A>T	ENSP00000452314.1:n.*90A>T
ENST00000622264.4:c.682A>T
NM_000153.3:c.692A>T	NP_000144.2:p.Glu231Val
NM_001201401.1:c.623A>T	NP_001188330.1:p.Glu208Val
NM_001201402.1:c.614A>T	NP_001188331.1:p.Glu205Val
XM_011536618.1:c.524A>T	XP_011534920.1:p.Glu175Val
XM_011536618.2:c.524A>T	XP_011534920.1:p.Glu175Val
NM_000153.4:c.692A>T MANE Select	NP_000144.2:p.Glu231Val
NM_001201401.2:c.623A>T	NP_001188330.1:p.Glu208Val
NM_001201402.2:c.614A>T	NP_001188331.1:p.Glu205Val