Canonical Allele Identifier: CA359787549

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56882252-T-A
• MyVariant Identifiers: chr5:g.56178079T>A (hg19) ; chr5:g.56882252T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882252T>A , CM000667.2:g.56882252T>A	GRCh38
NC_000005.9:g.56178079T>A , CM000667.1:g.56178079T>A	GRCh37
NC_000005.8:g.56213836T>A	NCBI36
NG_031884.1:g.72180T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3052T>A MANE Select	ENSP00000382423.3:p.Ser1018Thr
ENST00000399503.3:c.3052T>A	ENSP00000382423.3:p.Ser1018Thr
NM_005921.1:c.3052T>A	NP_005912.1:p.Ser1018Thr
XM_005248519.3:c.2674T>A	XP_005248576.2:p.Ser892Thr
XM_011543406.1:c.2797T>A	XP_011541708.1:p.Ser933Thr
XM_011543407.1:c.2773T>A	XP_011541709.1:p.Ser925Thr
XM_011543408.1:c.3052T>A	XP_011541710.1:p.Ser1018Thr
XM_017009484.1:c.2641T>A	XP_016864973.1:p.Ser881Thr
XM_017009485.1:c.2563T>A	XP_016864974.1:p.Ser855Thr
XR_001742068.2:n.3083T>A
NM_005921.2:c.3052T>A MANE Select	NP_005912.1:p.Ser1018Thr