Canonical Allele Identifier: CA412137471
Community Standard Title: NM_002969.6(MAPK12):c.71G>A (p.Arg24His)
Gene: MAPK12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50261439C>T , CM000684.2:g.50261439C>T GRCh38
NC_000022.10:g.50699868C>T , CM000684.1:g.50699868C>T GRCh37
NC_000022.9:g.49041995C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_002969.6:c.71G>A MANE Select NP_002960.2:p.Arg24His
ENST00000215659.13:c.71G>A MANE Select ENSP00000215659.8:p.Arg24His
NM_001303252.1:c.71G>A NP_001290181.1:p.Arg24His
NM_001303252.2:c.71G>A NP_001290181.1:p.Arg24His
NM_001303252.3:c.71G>A NP_001290181.1:p.Arg24His
NM_002969.4:c.71G>A NP_002960.2:p.Arg24His
NM_002969.5:c.71G>A NP_002960.2:p.Arg24His
ENST00000215659.12:c.71G>A ENSP00000215659.8:p.Arg24His
ENST00000395778.3:c.71G>A ENSP00000379124.3:p.Arg24His
ENST00000467891.5:n.270G>A
ENST00000488504.5:n.107G>A
ENST00000622558.4:c.71G>A ENSP00000479972.1:p.Arg24His