Canonical Allele Identifier: CA447179906
Gene: GM2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.150639435T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151259874T>C , CM000667.2:g.151259874T>C GRCh38
NC_000005.9:g.150639435T>C , CM000667.1:g.150639435T>C GRCh37
NC_000005.8:g.150619628T>C NCBI36
NG_009059.1:g.11823T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357164.4:c.201T>C MANE Select ENSP00000349687.3:p.Ser67=
ENST00000357164.3:c.201T>C ENSP00000349687.3:p.Ser67=
ENST00000523004.1:c.76T>C
ENST00000523466.5:c.246T>C ENSP00000429100.1:p.Ser82=
NM_000405.4:c.201T>C NP_000396.2:p.Ser67=
NM_001167607.1:c.201T>C NP_001161079.1:p.Ser67=
NM_000405.5:c.201T>C MANE Select NP_000396.2:p.Ser67=
NM_001167607.2:c.201T>C NP_001161079.1:p.Ser67=
NM_001167607.3:c.201T>C NP_001161079.1:p.Ser67=