Canonical Allele Identifier: CA3272596

Gene: MAP3K1

Linked Data

• ClinVar Variation Id: 772120
• ClinVar RCV Id: RCV000951580
• dbSNP Id: rs56279792
• ExAC: 5:56155628 G / A
• gnomAD v2: 5-56155628-G-A
• gnomAD v3: 5-56859801-G-A
• gnomAD v4: 5-56859801-G-A
• MyVariant Identifiers: chr5:g.56155628G>A (hg19) ; chr5:g.56859801G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859801G>A , CM000667.2:g.56859801G>A	GRCh38
NC_000005.9:g.56155628G>A , CM000667.1:g.56155628G>A	GRCh37
NC_000005.8:g.56191385G>A	NCBI36
NG_031884.1:g.49729G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.720G>A MANE Select	ENSP00000382423.3:p.Ala240=
ENST00000399503.3:c.720G>A	ENSP00000382423.3:p.Ala240=
NM_005921.1:c.720G>A	NP_005912.1:p.Ala240=
XM_005248519.3:c.342G>A	XP_005248576.2:p.Ala114=
XM_011543406.1:c.465G>A	XP_011541708.1:p.Ala155=
XM_011543407.1:c.720G>A	XP_011541709.1:p.Ala240=
XM_011543408.1:c.720G>A	XP_011541710.1:p.Ala240=
XM_017009484.1:c.309G>A	XP_016864973.1:p.Ala103=
XM_017009485.1:c.231G>A	XP_016864974.1:p.Ala77=
XR_001742068.2:n.751G>A
NM_005921.2:c.720G>A MANE Select	NP_005912.1:p.Ala240=