Canonical Allele Identifier: CA1591312118
Gene: GM2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151259879T= , CM000667.2:g.151259879T= GRCh38
NC_000005.9:g.150639440T= , CM000667.1:g.150639440T= GRCh37
NC_000005.8:g.150619633T= NCBI36
NG_009059.1:g.11828T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357164.4:c.206T= MANE Select ENSP00000349687.3:p.Met69=
ENST00000357164.3:c.206T= ENSP00000349687.3:p.Met69=
ENST00000523004.1:c.81T=
ENST00000523466.5:c.251T= ENSP00000429100.1:p.Met84=
NM_000405.4:c.206T= NP_000396.2:p.Met69=
NM_001167607.1:c.206T= NP_001161079.1:p.Met69=
NM_000405.5:c.206T= MANE Select NP_000396.2:p.Met69=
NM_001167607.2:c.206T= NP_001161079.1:p.Met69=
NM_001167607.3:c.206T= NP_001161079.1:p.Met69=