Canonical Allele Identifier: CA359802425

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56155594C>A (hg19) ; chr5:g.56859767C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859767C>A , CM000667.2:g.56859767C>A	GRCh38
NC_000005.9:g.56155594C>A , CM000667.1:g.56155594C>A	GRCh37
NC_000005.8:g.56191351C>A	NCBI36
NG_031884.1:g.49695C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.686C>A MANE Select	ENSP00000382423.3:p.Ala229Glu
ENST00000399503.3:c.686C>A	ENSP00000382423.3:p.Ala229Glu
NM_005921.1:c.686C>A	NP_005912.1:p.Ala229Glu
XM_005248519.3:c.308C>A	XP_005248576.2:p.Ala103Glu
XM_011543406.1:c.431C>A	XP_011541708.1:p.Ala144Glu
XM_011543407.1:c.686C>A	XP_011541709.1:p.Ala229Glu
XM_011543408.1:c.686C>A	XP_011541710.1:p.Ala229Glu
XM_017009484.1:c.275C>A	XP_016864973.1:p.Ala92Glu
XM_017009485.1:c.197C>A	XP_016864974.1:p.Ala66Glu
XR_001742068.2:n.717C>A
NM_005921.2:c.686C>A MANE Select	NP_005912.1:p.Ala229Glu