Canonical Allele Identifier: CA359786426

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56881895-A-T
• MyVariant Identifiers: chr5:g.56177722A>T (hg19) ; chr5:g.56881895A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881895A>T , CM000667.2:g.56881895A>T	GRCh38
NC_000005.9:g.56177722A>T , CM000667.1:g.56177722A>T	GRCh37
NC_000005.8:g.56213479A>T	NCBI36
NG_031884.1:g.71823A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2695A>T MANE Select	ENSP00000382423.3:p.Asn899Tyr
ENST00000399503.3:c.2695A>T	ENSP00000382423.3:p.Asn899Tyr
NM_005921.1:c.2695A>T	NP_005912.1:p.Asn899Tyr
XM_005248519.3:c.2317A>T	XP_005248576.2:p.Asn773Tyr
XM_011543406.1:c.2440A>T	XP_011541708.1:p.Asn814Tyr
XM_011543407.1:c.2416A>T	XP_011541709.1:p.Asn806Tyr
XM_011543408.1:c.2695A>T	XP_011541710.1:p.Asn899Tyr
XM_017009484.1:c.2284A>T	XP_016864973.1:p.Asn762Tyr
XM_017009485.1:c.2206A>T	XP_016864974.1:p.Asn736Tyr
XR_001742068.2:n.2726A>T
NM_005921.2:c.2695A>T MANE Select	NP_005912.1:p.Asn899Tyr