Canonical Allele Identifier: CA361805818
Gene: GM2A HGNC NCBI

Linked Data

gnomAD v4: 5-151259797-G-C
MyVariant Identifiers: chr5:g.150639358G>C (hg19) chr5:g.151259797G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151259797G>C , CM000667.2:g.151259797G>C GRCh38
NC_000005.9:g.150639358G>C , CM000667.1:g.150639358G>C GRCh37
NC_000005.8:g.150619551G>C NCBI36
NG_009059.1:g.11746G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357164.4:c.124G>C MANE Select ENSP00000349687.3:p.Gly42Arg
ENST00000357164.3:c.124G>C ENSP00000349687.3:p.Gly42Arg
ENST00000523466.5:c.169G>C ENSP00000429100.1:p.Gly57Arg
NM_000405.4:c.124G>C NP_000396.2:p.Gly42Arg
NM_001167607.1:c.124G>C NP_001161079.1:p.Gly42Arg
NM_000405.5:c.124G>C MANE Select NP_000396.2:p.Gly42Arg
NM_001167607.2:c.124G>C NP_001161079.1:p.Gly42Arg
NM_001167607.3:c.124G>C NP_001161079.1:p.Gly42Arg
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