Canonical Allele Identifier: CA812363603

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1363000628
• gnomAD v3: 5-56857480-T-A
• gnomAD v4: 5-56857480-T-A
• MyVariant Identifiers: chr5:g.56153307T>A (hg19) ; chr5:g.56857480T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56857480T>A , CM000667.2:g.56857480T>A	GRCh38
NC_000005.9:g.56153307T>A , CM000667.1:g.56153307T>A	GRCh37
NC_000005.8:g.56189064T>A	NCBI36
NG_031884.1:g.47408T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.633+730T>A MANE Select	ENSP00000382423.3:n.633+730T>A
ENST00000399503.3:c.633+730T>A	ENSP00000382423.3:n.633+730T>A
NM_005921.1:c.633+730T>A	NP_005912.1:n.633+730T>A
XM_005248519.3:c.255+730T>A	XP_005248576.2:n.255+730T>A
XM_011543406.1:c.378+730T>A	XP_011541708.1:n.378+730T>A
XM_011543407.1:c.633+730T>A	XP_011541709.1:n.633+730T>A
XM_011543408.1:c.633+730T>A	XP_011541710.1:n.633+730T>A
XM_017009484.1:c.222+730T>A	XP_016864973.1:n.222+730T>A
XM_017009485.1:c.144+730T>A	XP_016864974.1:n.144+730T>A
XR_001742068.2:n.664+730T>A
NM_005921.2:c.633+730T>A MANE Select	NP_005912.1:n.633+730T>A