Canonical Allele Identifier: CA390749521

Gene: GALC

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.692A>C MANE Select	ENSP00000261304.2:p.Glu231Ala
ENST00000261304.6:c.692A>C	ENSP00000261304.2:p.Glu231Ala
ENST00000393568.8:c.623A>C	ENSP00000377198.4:p.Glu208Ala
ENST00000393569.6:c.614A>C	ENSP00000377199.2:p.Glu205Ala
ENST00000474294.6:n.682A>C
ENST00000477716.3:n.447A>C
ENST00000544807.6:c.524A>C	ENSP00000437513.2:p.Glu175Ala
ENST00000554916.5:n.571A>C
ENST00000555000.5:c.59A>C	ENSP00000450472.1:p.Glu20Ala
ENST00000557316.5:c.*90A>C	ENSP00000452314.1:n.*90A>C
ENST00000622264.4:c.682A>C
NM_000153.3:c.692A>C	NP_000144.2:p.Glu231Ala
NM_001201401.1:c.623A>C	NP_001188330.1:p.Glu208Ala
NM_001201402.1:c.614A>C	NP_001188331.1:p.Glu205Ala
XM_011536618.1:c.524A>C	XP_011534920.1:p.Glu175Ala
XM_011536618.2:c.524A>C	XP_011534920.1:p.Glu175Ala
NM_000153.4:c.692A>C MANE Select	NP_000144.2:p.Glu231Ala
NM_001201401.2:c.623A>C	NP_001188330.1:p.Glu208Ala
NM_001201402.2:c.614A>C	NP_001188331.1:p.Glu205Ala