Canonical Allele Identifier: CA1591312125
Gene: GM2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151259891G= , CM000667.2:g.151259891G= GRCh38
NC_000005.9:g.150639452G= , CM000667.1:g.150639452G= GRCh37
NC_000005.8:g.150619645G= NCBI36
NG_009059.1:g.11840G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357164.4:c.218G= MANE Select ENSP00000349687.3:p.Ser73=
ENST00000357164.3:c.218G= ENSP00000349687.3:p.Ser73=
ENST00000523004.1:c.93G=
ENST00000523466.5:c.263G= ENSP00000429100.1:p.Ser88=
NM_000405.4:c.218G= NP_000396.2:p.Ser73=
NM_001167607.1:c.218G= NP_001161079.1:p.Ser73=
NM_000405.5:c.218G= MANE Select NP_000396.2:p.Ser73=
NM_001167607.2:c.218G= NP_001161079.1:p.Ser73=
NM_001167607.3:c.218G= NP_001161079.1:p.Ser73=