Canonical Allele Identifier: CA359786599

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1482876922
• gnomAD v2: 5-56177800-G-A
• gnomAD v4: 5-56881973-G-A
• MyVariant Identifiers: chr5:g.56177800G>A (hg19) ; chr5:g.56881973G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881973G>A , CM000667.2:g.56881973G>A	GRCh38
NC_000005.9:g.56177800G>A , CM000667.1:g.56177800G>A	GRCh37
NC_000005.8:g.56213557G>A	NCBI36
NG_031884.1:g.71901G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2773G>A MANE Select	ENSP00000382423.3:p.Glu925Lys
ENST00000399503.3:c.2773G>A	ENSP00000382423.3:p.Glu925Lys
NM_005921.1:c.2773G>A	NP_005912.1:p.Glu925Lys
XM_005248519.3:c.2395G>A	XP_005248576.2:p.Glu799Lys
XM_011543406.1:c.2518G>A	XP_011541708.1:p.Glu840Lys
XM_011543407.1:c.2494G>A	XP_011541709.1:p.Glu832Lys
XM_011543408.1:c.2773G>A	XP_011541710.1:p.Glu925Lys
XM_017009484.1:c.2362G>A	XP_016864973.1:p.Glu788Lys
XM_017009485.1:c.2284G>A	XP_016864974.1:p.Glu762Lys
XR_001742068.2:n.2804G>A
NM_005921.2:c.2773G>A MANE Select	NP_005912.1:p.Glu925Lys