Canonical Allele Identifier: CA444391703

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1747450459
• gnomAD v3: 5-56859819-A-G
• gnomAD v4: 5-56859819-A-G
• MyVariant Identifiers: chr5:g.56155646A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859819A>G , CM000667.2:g.56859819A>G	GRCh38
NC_000005.9:g.56155646A>G , CM000667.1:g.56155646A>G	GRCh37
NC_000005.8:g.56191403A>G	NCBI36
NG_031884.1:g.49747A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.738A>G MANE Select	ENSP00000382423.3:p.Lys246=
ENST00000399503.3:c.738A>G	ENSP00000382423.3:p.Lys246=
NM_005921.1:c.738A>G	NP_005912.1:p.Lys246=
XM_005248519.3:c.360A>G	XP_005248576.2:p.Lys120=
XM_011543406.1:c.483A>G	XP_011541708.1:p.Lys161=
XM_011543407.1:c.738A>G	XP_011541709.1:p.Lys246=
XM_011543408.1:c.738A>G	XP_011541710.1:p.Lys246=
XM_017009484.1:c.327A>G	XP_016864973.1:p.Lys109=
XM_017009485.1:c.249A>G	XP_016864974.1:p.Lys83=
XR_001742068.2:n.769A>G
NM_005921.2:c.738A>G MANE Select	NP_005912.1:p.Lys246=