Canonical Allele Identifier: CA3272656
Gene: MAP3K1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56864858A>G , CM000667.2:g.56864858A>G GRCh38
NC_000005.9:g.56160685A>G , CM000667.1:g.56160685A>G GRCh37
NC_000005.8:g.56196442A>G NCBI36
NG_031884.1:g.54786A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005921.2:c.959A>G MANE Select NP_005912.1:p.Gln320Arg
ENST00000399503.4:c.959A>G MANE Select ENSP00000382423.3:p.Gln320Arg
NM_005921.1:c.959A>G NP_005912.1:p.Gln320Arg
ENST00000399503.3:c.959A>G ENSP00000382423.3:p.Gln320Arg
XM_005248519.3:c.581A>G XP_005248576.2:p.Gln194Arg
XM_011543406.1:c.704A>G XP_011541708.1:p.Gln235Arg
XM_011543407.1:c.959A>G XP_011541709.1:p.Gln320Arg
XM_011543408.1:c.959A>G XP_011541710.1:p.Gln320Arg
XM_017009484.1:c.548A>G XP_016864973.1:p.Gln183Arg
XM_017009485.1:c.470A>G XP_016864974.1:p.Gln157Arg
XR_001742068.2:n.990A>G