Canonical Allele Identifier: CA359802428

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56859769-G-A
• MyVariant Identifiers: chr5:g.56155596G>A (hg19) ; chr5:g.56859769G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859769G>A , CM000667.2:g.56859769G>A	GRCh38
NC_000005.9:g.56155596G>A , CM000667.1:g.56155596G>A	GRCh37
NC_000005.8:g.56191353G>A	NCBI36
NG_031884.1:g.49697G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.688G>A MANE Select	ENSP00000382423.3:p.Ala230Thr
ENST00000399503.3:c.688G>A	ENSP00000382423.3:p.Ala230Thr
NM_005921.1:c.688G>A	NP_005912.1:p.Ala230Thr
XM_005248519.3:c.310G>A	XP_005248576.2:p.Ala104Thr
XM_011543406.1:c.433G>A	XP_011541708.1:p.Ala145Thr
XM_011543407.1:c.688G>A	XP_011541709.1:p.Ala230Thr
XM_011543408.1:c.688G>A	XP_011541710.1:p.Ala230Thr
XM_017009484.1:c.277G>A	XP_016864973.1:p.Ala93Thr
XM_017009485.1:c.199G>A	XP_016864974.1:p.Ala67Thr
XR_001742068.2:n.719G>A
NM_005921.2:c.688G>A MANE Select	NP_005912.1:p.Ala230Thr