Canonical Allele Identifier: CA3272608

Gene: MAP3K1

Linked Data

• dbSNP Id: rs768948038
• ExAC: 5:56155687 G / A
• gnomAD v2: 5-56155687-G-A
• gnomAD v4: 5-56859860-G-A
• MyVariant Identifiers: chr5:g.56155687G>A (hg19) ; chr5:g.56859860G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859860G>A , CM000667.2:g.56859860G>A	GRCh38
NC_000005.9:g.56155687G>A , CM000667.1:g.56155687G>A	GRCh37
NC_000005.8:g.56191444G>A	NCBI36
NG_031884.1:g.49788G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.779G>A MANE Select	ENSP00000382423.3:p.Arg260His
ENST00000399503.3:c.779G>A	ENSP00000382423.3:p.Arg260His
NM_005921.1:c.779G>A	NP_005912.1:p.Arg260His
XM_005248519.3:c.401G>A	XP_005248576.2:p.Arg134His
XM_011543406.1:c.524G>A	XP_011541708.1:p.Arg175His
XM_011543407.1:c.779G>A	XP_011541709.1:p.Arg260His
XM_011543408.1:c.779G>A	XP_011541710.1:p.Arg260His
XM_017009484.1:c.368G>A	XP_016864973.1:p.Arg123His
XM_017009485.1:c.290G>A	XP_016864974.1:p.Arg97His
XR_001742068.2:n.810G>A
NM_005921.2:c.779G>A MANE Select	NP_005912.1:p.Arg260His