Canonical Allele Identifier: CA359787661

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1748246465
• gnomAD v4: 5-56882303-G-A
• MyVariant Identifiers: chr5:g.56178130G>A (hg19) ; chr5:g.56882303G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882303G>A , CM000667.2:g.56882303G>A	GRCh38
NC_000005.9:g.56178130G>A , CM000667.1:g.56178130G>A	GRCh37
NC_000005.8:g.56213887G>A	NCBI36
NG_031884.1:g.72231G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3103G>A MANE Select	ENSP00000382423.3:p.Glu1035Lys
ENST00000399503.3:c.3103G>A	ENSP00000382423.3:p.Glu1035Lys
NM_005921.1:c.3103G>A	NP_005912.1:p.Glu1035Lys
XM_005248519.3:c.2725G>A	XP_005248576.2:p.Glu909Lys
XM_011543406.1:c.2848G>A	XP_011541708.1:p.Glu950Lys
XM_011543407.1:c.2824G>A	XP_011541709.1:p.Glu942Lys
XM_011543408.1:c.3103G>A	XP_011541710.1:p.Glu1035Lys
XM_017009484.1:c.2692G>A	XP_016864973.1:p.Glu898Lys
XM_017009485.1:c.2614G>A	XP_016864974.1:p.Glu872Lys
XR_001742068.2:n.3134G>A
NM_005921.2:c.3103G>A MANE Select	NP_005912.1:p.Glu1035Lys