Canonical Allele Identifier: CA444398781
Gene: MAP3K1 HGNC NCBI

Linked Data

dbSNP Id: rs1342745687
MyVariant Identifiers: chr5:g.56171029C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56875202C>A , CM000667.2:g.56875202C>A GRCh38
NC_000005.9:g.56171029C>A , CM000667.1:g.56171029C>A GRCh37
NC_000005.8:g.56206786C>A NCBI36
NG_031884.1:g.65130C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000399503.4:c.1857C>A MANE Select ENSP00000382423.3:p.Thr619=
ENST00000399503.3:c.1857C>A ENSP00000382423.3:p.Thr619=
NM_005921.1:c.1857C>A NP_005912.1:p.Thr619=
XM_005248519.3:c.1479C>A XP_005248576.2:p.Thr493=
XM_011543406.1:c.1602C>A XP_011541708.1:p.Thr534=
XM_011543407.1:c.1686+2197C>A XP_011541709.1:n.1686+2197C>A
XM_011543408.1:c.1857C>A XP_011541710.1:p.Thr619=
XM_017009484.1:c.1446C>A XP_016864973.1:p.Thr482=
XM_017009485.1:c.1368C>A XP_016864974.1:p.Thr456=
XR_001742068.2:n.1888C>A
NM_005921.2:c.1857C>A MANE Select NP_005912.1:p.Thr619=