Canonical Allele Identifier: CA359786437

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1748221824
• gnomAD v4: 5-56881900-T-A
• MyVariant Identifiers: chr5:g.56177727T>A (hg19) ; chr5:g.56881900T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881900T>A , CM000667.2:g.56881900T>A	GRCh38
NC_000005.9:g.56177727T>A , CM000667.1:g.56177727T>A	GRCh37
NC_000005.8:g.56213484T>A	NCBI36
NG_031884.1:g.71828T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2700T>A MANE Select	ENSP00000382423.3:p.Ser900Arg
ENST00000399503.3:c.2700T>A	ENSP00000382423.3:p.Ser900Arg
NM_005921.1:c.2700T>A	NP_005912.1:p.Ser900Arg
XM_005248519.3:c.2322T>A	XP_005248576.2:p.Ser774Arg
XM_011543406.1:c.2445T>A	XP_011541708.1:p.Ser815Arg
XM_011543407.1:c.2421T>A	XP_011541709.1:p.Ser807Arg
XM_011543408.1:c.2700T>A	XP_011541710.1:p.Ser900Arg
XM_017009484.1:c.2289T>A	XP_016864973.1:p.Ser763Arg
XM_017009485.1:c.2211T>A	XP_016864974.1:p.Ser737Arg
XR_001742068.2:n.2731T>A
NM_005921.2:c.2700T>A MANE Select	NP_005912.1:p.Ser900Arg