Canonical Allele Identifier: CA359787760

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1561200313
• gnomAD v4: 5-56882348-A-G
• MyVariant Identifiers: chr5:g.56178175A>G (hg19) ; chr5:g.56882348A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882348A>G , CM000667.2:g.56882348A>G	GRCh38
NC_000005.9:g.56178175A>G , CM000667.1:g.56178175A>G	GRCh37
NC_000005.8:g.56213932A>G	NCBI36
NG_031884.1:g.72276A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3148A>G MANE Select	ENSP00000382423.3:p.Arg1050Gly
ENST00000399503.3:c.3148A>G	ENSP00000382423.3:p.Arg1050Gly
NM_005921.1:c.3148A>G	NP_005912.1:p.Arg1050Gly
XM_005248519.3:c.2770A>G	XP_005248576.2:p.Arg924Gly
XM_011543406.1:c.2893A>G	XP_011541708.1:p.Arg965Gly
XM_011543407.1:c.2869A>G	XP_011541709.1:p.Arg957Gly
XM_011543408.1:c.3148A>G	XP_011541710.1:p.Arg1050Gly
XM_017009484.1:c.2737A>G	XP_016864973.1:p.Arg913Gly
XM_017009485.1:c.2659A>G	XP_016864974.1:p.Arg887Gly
XR_001742068.2:n.3179A>G
NM_005921.2:c.3148A>G MANE Select	NP_005912.1:p.Arg1050Gly