Canonical Allele Identifier: CA359802627

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1320001436
• gnomAD v2: 5-56155698-T-A
• MyVariant Identifiers: chr5:g.56155698T>A (hg19) ; chr5:g.56859871T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859871T>A , CM000667.2:g.56859871T>A	GRCh38
NC_000005.9:g.56155698T>A , CM000667.1:g.56155698T>A	GRCh37
NC_000005.8:g.56191455T>A	NCBI36
NG_031884.1:g.49799T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.790T>A MANE Select	ENSP00000382423.3:p.Ser264Thr
ENST00000399503.3:c.790T>A	ENSP00000382423.3:p.Ser264Thr
NM_005921.1:c.790T>A	NP_005912.1:p.Ser264Thr
XM_005248519.3:c.412T>A	XP_005248576.2:p.Ser138Thr
XM_011543406.1:c.535T>A	XP_011541708.1:p.Ser179Thr
XM_011543407.1:c.790T>A	XP_011541709.1:p.Ser264Thr
XM_011543408.1:c.790T>A	XP_011541710.1:p.Ser264Thr
XM_017009484.1:c.379T>A	XP_016864973.1:p.Ser127Thr
XM_017009485.1:c.301T>A	XP_016864974.1:p.Ser101Thr
XR_001742068.2:n.821T>A
NM_005921.2:c.790T>A MANE Select	NP_005912.1:p.Ser264Thr