Canonical Allele Identifier: CA3273059

Gene: MAP3K1

Linked Data

• dbSNP Id: rs768441732
• ExAC: 5:56177826 C / A
• gnomAD v2: 5-56177826-C-A
• MyVariant Identifiers: chr5:g.56177826C>A (hg19) ; chr5:g.56881999C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881999C>A , CM000667.2:g.56881999C>A	GRCh38
NC_000005.9:g.56177826C>A , CM000667.1:g.56177826C>A	GRCh37
NC_000005.8:g.56213583C>A	NCBI36
NG_031884.1:g.71927C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2799C>A MANE Select	ENSP00000382423.3:p.Ser933Arg
ENST00000399503.3:c.2799C>A	ENSP00000382423.3:p.Ser933Arg
NM_005921.1:c.2799C>A	NP_005912.1:p.Ser933Arg
XM_005248519.3:c.2421C>A	XP_005248576.2:p.Ser807Arg
XM_011543406.1:c.2544C>A	XP_011541708.1:p.Ser848Arg
XM_011543407.1:c.2520C>A	XP_011541709.1:p.Ser840Arg
XM_011543408.1:c.2799C>A	XP_011541710.1:p.Ser933Arg
XM_017009484.1:c.2388C>A	XP_016864973.1:p.Ser796Arg
XM_017009485.1:c.2310C>A	XP_016864974.1:p.Ser770Arg
XR_001742068.2:n.2830C>A
NM_005921.2:c.2799C>A MANE Select	NP_005912.1:p.Ser933Arg