Canonical Allele Identifier: CA3273035

Gene: MAP3K1

Linked Data

• dbSNP Id: rs748188709
• ExAC: 5:56177663 G / A
• MyVariant Identifiers: chr5:g.56177663G>A (hg19) ; chr5:g.56881836G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881836G>A , CM000667.2:g.56881836G>A	GRCh38
NC_000005.9:g.56177663G>A , CM000667.1:g.56177663G>A	GRCh37
NC_000005.8:g.56213420G>A	NCBI36
NG_031884.1:g.71764G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2636G>A MANE Select	ENSP00000382423.3:p.Gly879Asp
ENST00000399503.3:c.2636G>A	ENSP00000382423.3:p.Gly879Asp
NM_005921.1:c.2636G>A	NP_005912.1:p.Gly879Asp
XM_005248519.3:c.2258G>A	XP_005248576.2:p.Gly753Asp
XM_011543406.1:c.2381G>A	XP_011541708.1:p.Gly794Asp
XM_011543407.1:c.2357G>A	XP_011541709.1:p.Gly786Asp
XM_011543408.1:c.2636G>A	XP_011541710.1:p.Gly879Asp
XM_017009484.1:c.2225G>A	XP_016864973.1:p.Gly742Asp
XM_017009485.1:c.2147G>A	XP_016864974.1:p.Gly716Asp
XR_001742068.2:n.2667G>A
NM_005921.2:c.2636G>A MANE Select	NP_005912.1:p.Gly879Asp