Canonical Allele Identifier: CA359787815

Gene: MAP3K1

Linked Data

• dbSNP Id: rs2111946226
• MyVariant Identifiers: chr5:g.56178199C>A (hg19) ; chr5:g.56882372C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882372C>A , CM000667.2:g.56882372C>A	GRCh38
NC_000005.9:g.56178199C>A , CM000667.1:g.56178199C>A	GRCh37
NC_000005.8:g.56213956C>A	NCBI36
NG_031884.1:g.72300C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3172C>A MANE Select	ENSP00000382423.3:p.His1058Asn
ENST00000399503.3:c.3172C>A	ENSP00000382423.3:p.His1058Asn
NM_005921.1:c.3172C>A	NP_005912.1:p.His1058Asn
XM_005248519.3:c.2794C>A	XP_005248576.2:p.His932Asn
XM_011543406.1:c.2917C>A	XP_011541708.1:p.His973Asn
XM_011543407.1:c.2893C>A	XP_011541709.1:p.His965Asn
XM_011543408.1:c.3172C>A	XP_011541710.1:p.His1058Asn
XM_017009484.1:c.2761C>A	XP_016864973.1:p.His921Asn
XM_017009485.1:c.2683C>A	XP_016864974.1:p.His895Asn
XR_001742068.2:n.3203C>A
NM_005921.2:c.3172C>A MANE Select	NP_005912.1:p.His1058Asn