Canonical Allele Identifier: CA3272594

Gene: MAP3K1

Linked Data

• dbSNP Id: rs200127101
• ExAC: 5:56155625 T / G
• gnomAD v2: 5-56155625-T-G
• gnomAD v4: 5-56859798-T-G
• MyVariant Identifiers: chr5:g.56155625T>G (hg19) ; chr5:g.56859798T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859798T>G , CM000667.2:g.56859798T>G	GRCh38
NC_000005.9:g.56155625T>G , CM000667.1:g.56155625T>G	GRCh37
NC_000005.8:g.56191382T>G	NCBI36
NG_031884.1:g.49726T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.717T>G MANE Select	ENSP00000382423.3:p.Ser239Arg
ENST00000399503.3:c.717T>G	ENSP00000382423.3:p.Ser239Arg
NM_005921.1:c.717T>G	NP_005912.1:p.Ser239Arg
XM_005248519.3:c.339T>G	XP_005248576.2:p.Ser113Arg
XM_011543406.1:c.462T>G	XP_011541708.1:p.Ser154Arg
XM_011543407.1:c.717T>G	XP_011541709.1:p.Ser239Arg
XM_011543408.1:c.717T>G	XP_011541710.1:p.Ser239Arg
XM_017009484.1:c.306T>G	XP_016864973.1:p.Ser102Arg
XM_017009485.1:c.228T>G	XP_016864974.1:p.Ser76Arg
XR_001742068.2:n.748T>G
NM_005921.2:c.717T>G MANE Select	NP_005912.1:p.Ser239Arg