Canonical Allele Identifier: CA447180324
Gene: GM2A HGNC NCBI

Linked Data

gnomAD v4: 5-151266805-T-C
MyVariant Identifiers: chr5:g.150646366T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151266805T>C , CM000667.2:g.151266805T>C GRCh38
NC_000005.9:g.150646366T>C , CM000667.1:g.150646366T>C GRCh37
NC_000005.8:g.150626559T>C NCBI36
NG_009059.1:g.18754T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000357164.4:c.318T>C MANE Select ENSP00000349687.3:p.Cys106=
ENST00000357164.3:c.318T>C ENSP00000349687.3:p.Cys106=
ENST00000523004.1:c.193T>C
ENST00000523466.5:c.363T>C ENSP00000429100.1:p.Cys121=
NM_000405.4:c.318T>C NP_000396.2:p.Cys106=
NM_001167607.1:c.318T>C NP_001161079.1:p.Cys106=
NM_000405.5:c.318T>C MANE Select NP_000396.2:p.Cys106=
NM_001167607.2:c.318T>C NP_001161079.1:p.Cys106=
NM_001167607.3:c.318T>C NP_001161079.1:p.Cys106=
Search 100 bp 5'
Search 100 bp 3'