Canonical Allele Identifier: CA114236
Gene: GM2A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 394
ClinVar RCV Id: RCV000000425
dbSNP Id: rs104893897

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151259833G>T , CM000667.2:g.151259833G>T GRCh38
NC_000005.9:g.150639394G>T , CM000667.1:g.150639394G>T GRCh37
NC_000005.8:g.150619587G>T NCBI36
NG_009059.1:g.11782G>T

Transcript Alleles

HGVS Amino-acid change
NM_000405.4:c.160G>T VV NP_000396.2:p.Glu54Ter
NM_001167607.1:c.160G>T VV NP_001161079.1:p.Glu54Ter
ENST00000357164.3:c.160G>T ENSP00000349687.3:p.Glu54Ter
ENST00000523004.1:n.35G>T
ENST00000523466.5:c.205G>T ENSP00000429100.1:p.Glu69Ter