Canonical Allele Identifier: CA7297277

Gene: GALC

Linked Data

• ClinVar Variation Id: 553651
• ClinVar RCV Id: RCV000669147 ; RCV003226357
• dbSNP Id: rs542231350
• ExAC: 14:88442763 C / T
• gnomAD v2: 14-88442763-C-T
• gnomAD v3: 14-87976419-C-T
• gnomAD v4: 14-87976419-C-T
• MyVariant Identifiers: chr14:g.88442763C>T (hg19) ; chr14:g.87976419C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976419C>T , CM000676.2:g.87976419C>T	GRCh38
NC_000014.8:g.88442763C>T , CM000676.1:g.88442763C>T	GRCh37
NC_000014.7:g.87512516C>T	NCBI36
NG_011853.2:g.22145G>A
NG_011853.3:g.22145G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.691G>A MANE Select	ENSP00000261304.2:p.Glu231Lys
ENST00000261304.6:c.691G>A	ENSP00000261304.2:p.Glu231Lys
ENST00000393568.8:c.622G>A	ENSP00000377198.4:p.Glu208Lys
ENST00000393569.6:c.613G>A	ENSP00000377199.2:p.Glu205Lys
ENST00000474294.6:n.681G>A
ENST00000477716.3:n.446G>A
ENST00000544807.6:c.523G>A	ENSP00000437513.2:p.Glu175Lys
ENST00000554916.5:n.570G>A
ENST00000555000.5:c.58G>A	ENSP00000450472.1:p.Glu20Lys
ENST00000557316.5:c.*89G>A	ENSP00000452314.1:n.*89G>A
ENST00000622264.4:c.681G>A
NM_000153.3:c.691G>A	NP_000144.2:p.Glu231Lys
NM_001201401.1:c.622G>A	NP_001188330.1:p.Glu208Lys
NM_001201402.1:c.613G>A	NP_001188331.1:p.Glu205Lys
XM_011536618.1:c.523G>A	XP_011534920.1:p.Glu175Lys
XM_011536618.2:c.523G>A	XP_011534920.1:p.Glu175Lys
NM_000153.4:c.691G>A MANE Select	NP_000144.2:p.Glu231Lys
NM_001201401.2:c.622G>A	NP_001188330.1:p.Glu208Lys
NM_001201402.2:c.613G>A	NP_001188331.1:p.Glu205Lys