Canonical Allele Identifier: CA359802422

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56155593G>A (hg19) ; chr5:g.56859766G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859766G>A , CM000667.2:g.56859766G>A	GRCh38
NC_000005.9:g.56155593G>A , CM000667.1:g.56155593G>A	GRCh37
NC_000005.8:g.56191350G>A	NCBI36
NG_031884.1:g.49694G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.685G>A MANE Select	ENSP00000382423.3:p.Ala229Thr
ENST00000399503.3:c.685G>A	ENSP00000382423.3:p.Ala229Thr
NM_005921.1:c.685G>A	NP_005912.1:p.Ala229Thr
XM_005248519.3:c.307G>A	XP_005248576.2:p.Ala103Thr
XM_011543406.1:c.430G>A	XP_011541708.1:p.Ala144Thr
XM_011543407.1:c.685G>A	XP_011541709.1:p.Ala229Thr
XM_011543408.1:c.685G>A	XP_011541710.1:p.Ala229Thr
XM_017009484.1:c.274G>A	XP_016864973.1:p.Ala92Thr
XM_017009485.1:c.196G>A	XP_016864974.1:p.Ala66Thr
XR_001742068.2:n.716G>A
NM_005921.2:c.685G>A MANE Select	NP_005912.1:p.Ala229Thr