Canonical Allele Identifier: CA119520081

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1005480603
• gnomAD v4: 5-56859785-A-G
• MyVariant Identifiers: chr5:g.56155612A>G (hg19) ; chr5:g.56859785A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859785A>G , CM000667.2:g.56859785A>G	GRCh38
NC_000005.9:g.56155612A>G , CM000667.1:g.56155612A>G	GRCh37
NC_000005.8:g.56191369A>G	NCBI36
NG_031884.1:g.49713A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.704A>G MANE Select	ENSP00000382423.3:p.Glu235Gly
ENST00000399503.3:c.704A>G	ENSP00000382423.3:p.Glu235Gly
NM_005921.1:c.704A>G	NP_005912.1:p.Glu235Gly
XM_005248519.3:c.326A>G	XP_005248576.2:p.Glu109Gly
XM_011543406.1:c.449A>G	XP_011541708.1:p.Glu150Gly
XM_011543407.1:c.704A>G	XP_011541709.1:p.Glu235Gly
XM_011543408.1:c.704A>G	XP_011541710.1:p.Glu235Gly
XM_017009484.1:c.293A>G	XP_016864973.1:p.Glu98Gly
XM_017009485.1:c.215A>G	XP_016864974.1:p.Glu72Gly
XR_001742068.2:n.735A>G
NM_005921.2:c.704A>G MANE Select	NP_005912.1:p.Glu235Gly