Canonical Allele Identifier: CA359780656

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1328894172
• gnomAD v3: 5-56875092-G-A
• gnomAD v4: 5-56875092-G-A
• MyVariant Identifiers: chr5:g.56170919G>A (hg19) ; chr5:g.56875092G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875092G>A , CM000667.2:g.56875092G>A	GRCh38
NC_000005.9:g.56170919G>A , CM000667.1:g.56170919G>A	GRCh37
NC_000005.8:g.56206676G>A	NCBI36
NG_031884.1:g.65020G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.1747G>A MANE Select	ENSP00000382423.3:p.Ala583Thr
ENST00000399503.3:c.1747G>A	ENSP00000382423.3:p.Ala583Thr
NM_005921.1:c.1747G>A	NP_005912.1:p.Ala583Thr
XM_005248519.3:c.1369G>A	XP_005248576.2:p.Ala457Thr
XM_011543406.1:c.1492G>A	XP_011541708.1:p.Ala498Thr
XM_011543407.1:c.1686+2087G>A	XP_011541709.1:n.1686+2087G>A
XM_011543408.1:c.1747G>A	XP_011541710.1:p.Ala583Thr
XM_017009484.1:c.1336G>A	XP_016864973.1:p.Ala446Thr
XM_017009485.1:c.1258G>A	XP_016864974.1:p.Ala420Thr
XR_001742068.2:n.1778G>A
NM_005921.2:c.1747G>A MANE Select	NP_005912.1:p.Ala583Thr