Canonical Allele Identifier: CA444391715
Gene: MAP3K1 HGNC NCBI

Linked Data

dbSNP Id: rs2111874327
MyVariant Identifiers: chr5:g.56155655C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56859828C>A , CM000667.2:g.56859828C>A GRCh38
NC_000005.9:g.56155655C>A , CM000667.1:g.56155655C>A GRCh37
NC_000005.8:g.56191412C>A NCBI36
NG_031884.1:g.49756C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.747C>A MANE Select ENSP00000382423.3:p.Arg249=
ENST00000399503.3:c.747C>A ENSP00000382423.3:p.Arg249=
NM_005921.1:c.747C>A NP_005912.1:p.Arg249=
XM_005248519.3:c.369C>A XP_005248576.2:p.Arg123=
XM_011543406.1:c.492C>A XP_011541708.1:p.Arg164=
XM_011543407.1:c.747C>A XP_011541709.1:p.Arg249=
XM_011543408.1:c.747C>A XP_011541710.1:p.Arg249=
XM_017009484.1:c.336C>A XP_016864973.1:p.Arg112=
XM_017009485.1:c.258C>A XP_016864974.1:p.Arg86=
XR_001742068.2:n.778C>A
NM_005921.2:c.747C>A MANE Select NP_005912.1:p.Arg249=