Canonical Allele Identifier: CA119520115

Gene: MAP3K1

Linked Data

• dbSNP Id: rs974500601
• gnomAD v2: 5-56155713-G-A
• gnomAD v3: 5-56859886-G-A
• gnomAD v4: 5-56859886-G-A
• MyVariant Identifiers: chr5:g.56155713G>A (hg19) ; chr5:g.56859886G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859886G>A , CM000667.2:g.56859886G>A	GRCh38
NC_000005.9:g.56155713G>A , CM000667.1:g.56155713G>A	GRCh37
NC_000005.8:g.56191470G>A	NCBI36
NG_031884.1:g.49814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.805G>A MANE Select	ENSP00000382423.3:p.Val269Ile
ENST00000399503.3:c.805G>A	ENSP00000382423.3:p.Val269Ile
NM_005921.1:c.805G>A	NP_005912.1:p.Val269Ile
XM_005248519.3:c.427G>A	XP_005248576.2:p.Val143Ile
XM_011543406.1:c.550G>A	XP_011541708.1:p.Val184Ile
XM_011543407.1:c.805G>A	XP_011541709.1:p.Val269Ile
XM_011543408.1:c.805G>A	XP_011541710.1:p.Val269Ile
XM_017009484.1:c.394G>A	XP_016864973.1:p.Val132Ile
XM_017009485.1:c.316G>A	XP_016864974.1:p.Val106Ile
XR_001742068.2:n.836G>A
NM_005921.2:c.805G>A MANE Select	NP_005912.1:p.Val269Ile