Canonical Allele Identifier: CA359787429

Gene: MAP3K1

Linked Data

• dbSNP Id: rs2111944597
• gnomAD v4: 5-56882196-C-A
• MyVariant Identifiers: chr5:g.56178023C>A (hg19) ; chr5:g.56882196C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882196C>A , CM000667.2:g.56882196C>A	GRCh38
NC_000005.9:g.56178023C>A , CM000667.1:g.56178023C>A	GRCh37
NC_000005.8:g.56213780C>A	NCBI36
NG_031884.1:g.72124C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.2996C>A MANE Select	ENSP00000382423.3:p.Thr999Lys
ENST00000399503.3:c.2996C>A	ENSP00000382423.3:p.Thr999Lys
NM_005921.1:c.2996C>A	NP_005912.1:p.Thr999Lys
XM_005248519.3:c.2618C>A	XP_005248576.2:p.Thr873Lys
XM_011543406.1:c.2741C>A	XP_011541708.1:p.Thr914Lys
XM_011543407.1:c.2717C>A	XP_011541709.1:p.Thr906Lys
XM_011543408.1:c.2996C>A	XP_011541710.1:p.Thr999Lys
XM_017009484.1:c.2585C>A	XP_016864973.1:p.Thr862Lys
XM_017009485.1:c.2507C>A	XP_016864974.1:p.Thr836Lys
XR_001742068.2:n.3027C>A
NM_005921.2:c.2996C>A MANE Select	NP_005912.1:p.Thr999Lys