Canonical Allele Identifier: CA359780922

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1473673195
• gnomAD v2: 5-56171003-G-A
• gnomAD v4: 5-56875176-G-A
• MyVariant Identifiers: chr5:g.56171003G>A (hg19) ; chr5:g.56875176G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875176G>A , CM000667.2:g.56875176G>A	GRCh38
NC_000005.9:g.56171003G>A , CM000667.1:g.56171003G>A	GRCh37
NC_000005.8:g.56206760G>A	NCBI36
NG_031884.1:g.65104G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.1831G>A MANE Select	ENSP00000382423.3:p.Gly611Arg
ENST00000399503.3:c.1831G>A	ENSP00000382423.3:p.Gly611Arg
NM_005921.1:c.1831G>A	NP_005912.1:p.Gly611Arg
XM_005248519.3:c.1453G>A	XP_005248576.2:p.Gly485Arg
XM_011543406.1:c.1576G>A	XP_011541708.1:p.Gly526Arg
XM_011543407.1:c.1686+2171G>A	XP_011541709.1:n.1686+2171G>A
XM_011543408.1:c.1831G>A	XP_011541710.1:p.Gly611Arg
XM_017009484.1:c.1420G>A	XP_016864973.1:p.Gly474Arg
XM_017009485.1:c.1342G>A	XP_016864974.1:p.Gly448Arg
XR_001742068.2:n.1862G>A
NM_005921.2:c.1831G>A MANE Select	NP_005912.1:p.Gly611Arg