Canonical Allele Identifier: CA487364935

Gene: GALC

Linked Data

• ClinVar Variation Id: 1103849
• ClinVar RCV Id: RCV001427670
• dbSNP Id: rs2139996403
• MyVariant Identifiers: chr14:g.88431937T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965593T>C , CM000676.2:g.87965593T>C	GRCh38
NC_000014.8:g.88431937T>C , CM000676.1:g.88431937T>C	GRCh37
NC_000014.7:g.87501690T>C	NCBI36
NG_011853.2:g.32971A>G
NG_011853.3:g.32971A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.945A>G MANE Select	ENSP00000261304.2:p.Glu315=
ENST00000261304.6:c.945A>G	ENSP00000261304.2:p.Glu315=
ENST00000393568.8:c.876A>G	ENSP00000377198.4:p.Glu292=
ENST00000393569.6:c.867A>G	ENSP00000377199.2:p.Glu289=
ENST00000474294.6:n.935A>G
ENST00000544807.6:c.777A>G	ENSP00000437513.2:p.Glu259=
ENST00000555000.5:c.312A>G	ENSP00000450472.1:p.Glu104=
ENST00000557316.5:c.*343A>G	ENSP00000452314.1:n.*343A>G
ENST00000557520.1:n.31A>G
ENST00000622264.4:c.935A>G
NM_000153.3:c.945A>G	NP_000144.2:p.Glu315=
NM_001201401.1:c.876A>G	NP_001188330.1:p.Glu292=
NM_001201402.1:c.867A>G	NP_001188331.1:p.Glu289=
XM_011536618.1:c.777A>G	XP_011534920.1:p.Glu259=
XM_011536618.2:c.777A>G	XP_011534920.1:p.Glu259=
NM_000153.4:c.945A>G MANE Select	NP_000144.2:p.Glu315=
NM_001201401.2:c.876A>G	NP_001188330.1:p.Glu292=
NM_001201402.2:c.867A>G	NP_001188331.1:p.Glu289=