Canonical Allele Identifier: CA359802464

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1475939630
• gnomAD v2: 5-56155613-G-T
• gnomAD v4: 5-56859786-G-T
• MyVariant Identifiers: chr5:g.56155613G>T (hg19) ; chr5:g.56859786G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859786G>T , CM000667.2:g.56859786G>T	GRCh38
NC_000005.9:g.56155613G>T , CM000667.1:g.56155613G>T	GRCh37
NC_000005.8:g.56191370G>T	NCBI36
NG_031884.1:g.49714G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.705G>T MANE Select	ENSP00000382423.3:p.Glu235Asp
ENST00000399503.3:c.705G>T	ENSP00000382423.3:p.Glu235Asp
NM_005921.1:c.705G>T	NP_005912.1:p.Glu235Asp
XM_005248519.3:c.327G>T	XP_005248576.2:p.Glu109Asp
XM_011543406.1:c.450G>T	XP_011541708.1:p.Glu150Asp
XM_011543407.1:c.705G>T	XP_011541709.1:p.Glu235Asp
XM_011543408.1:c.705G>T	XP_011541710.1:p.Glu235Asp
XM_017009484.1:c.294G>T	XP_016864973.1:p.Glu98Asp
XM_017009485.1:c.216G>T	XP_016864974.1:p.Glu72Asp
XR_001742068.2:n.736G>T
NM_005921.2:c.705G>T MANE Select	NP_005912.1:p.Glu235Asp