Canonical Allele Identifier: CA2573150263

Gene: GALC

Linked Data

• ClinVar Variation Id: 1485059
• ClinVar RCV Id: RCV002008373
• dbSNP Id: rs2140001432

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968346_87968347delinsCT , CM000676.2:g.87968346_87968347delinsCT	GRCh38
NC_000014.8:g.88434690_88434691delinsCT , CM000676.1:g.88434690_88434691delinsCT	GRCh37
NC_000014.7:g.87504443_87504444delinsCT	NCBI36
NG_011853.2:g.30217_30218delinsAG
NG_011853.3:g.30217_30218delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.896_897delinsAG MANE Select	ENSP00000261304.2:p.Gly299Glu
ENST00000261304.6:c.896_897delinsAG	ENSP00000261304.2:p.Gly299Glu
ENST00000393568.8:c.827_828delinsAG	ENSP00000377198.4:p.Gly276Glu
ENST00000393569.6:c.818_819delinsAG	ENSP00000377199.2:p.Gly273Glu
ENST00000474294.6:n.886_887delinsAG
ENST00000544807.6:c.728_729delinsAG	ENSP00000437513.2:p.Gly243Glu
ENST00000555000.5:c.263_264delinsAG	ENSP00000450472.1:p.Gly88Glu
ENST00000557316.5:c.*294_*295delinsAG	ENSP00000452314.1:n.*294_*295delinsAG
ENST00000622264.4:c.886_887delinsAG
NM_000153.3:c.896_897delinsAG	NP_000144.2:p.Gly299Glu
NM_001201401.1:c.827_828delinsAG	NP_001188330.1:p.Gly276Glu
NM_001201402.1:c.818_819delinsAG	NP_001188331.1:p.Gly273Glu
XM_011536618.1:c.728_729delinsAG	XP_011534920.1:p.Gly243Glu
XM_011536618.2:c.728_729delinsAG	XP_011534920.1:p.Gly243Glu
NM_000153.4:c.896_897delinsAG MANE Select	NP_000144.2:p.Gly299Glu
NM_001201401.2:c.827_828delinsAG	NP_001188330.1:p.Gly276Glu
NM_001201402.2:c.818_819delinsAG	NP_001188331.1:p.Gly273Glu