Canonical Allele Identifier: CA359786428

Gene: MAP3K1

Linked Data

• dbSNP Id: rs142968004
• gnomAD v3: 5-56881896-A-T
• gnomAD v4: 5-56881896-A-T
• MyVariant Identifiers: chr5:g.56177723A>T (hg19) ; chr5:g.56881896A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881896A>T , CM000667.2:g.56881896A>T	GRCh38
NC_000005.9:g.56177723A>T , CM000667.1:g.56177723A>T	GRCh37
NC_000005.8:g.56213480A>T	NCBI36
NG_031884.1:g.71824A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2696A>T MANE Select	ENSP00000382423.3:p.Asn899Ile
ENST00000399503.3:c.2696A>T	ENSP00000382423.3:p.Asn899Ile
NM_005921.1:c.2696A>T	NP_005912.1:p.Asn899Ile
XM_005248519.3:c.2318A>T	XP_005248576.2:p.Asn773Ile
XM_011543406.1:c.2441A>T	XP_011541708.1:p.Asn814Ile
XM_011543407.1:c.2417A>T	XP_011541709.1:p.Asn806Ile
XM_011543408.1:c.2696A>T	XP_011541710.1:p.Asn899Ile
XM_017009484.1:c.2285A>T	XP_016864973.1:p.Asn762Ile
XM_017009485.1:c.2207A>T	XP_016864974.1:p.Asn736Ile
XR_001742068.2:n.2727A>T
NM_005921.2:c.2696A>T MANE Select	NP_005912.1:p.Asn899Ile