Canonical Allele Identifier: CA3273107

Gene: MAP3K1

Linked Data

• dbSNP Id: rs758010402
• ExAC: 5:56178081 T / G
• gnomAD v2: 5-56178081-T-G
• gnomAD v4: 5-56882254-T-G
• MyVariant Identifiers: chr5:g.56178081T>G (hg19) ; chr5:g.56882254T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882254T>G , CM000667.2:g.56882254T>G	GRCh38
NC_000005.9:g.56178081T>G , CM000667.1:g.56178081T>G	GRCh37
NC_000005.8:g.56213838T>G	NCBI36
NG_031884.1:g.72182T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3054T>G MANE Select	ENSP00000382423.3:p.Ser1018=
ENST00000399503.3:c.3054T>G	ENSP00000382423.3:p.Ser1018=
NM_005921.1:c.3054T>G	NP_005912.1:p.Ser1018=
XM_005248519.3:c.2676T>G	XP_005248576.2:p.Ser892=
XM_011543406.1:c.2799T>G	XP_011541708.1:p.Ser933=
XM_011543407.1:c.2775T>G	XP_011541709.1:p.Ser925=
XM_011543408.1:c.3054T>G	XP_011541710.1:p.Ser1018=
XM_017009484.1:c.2643T>G	XP_016864973.1:p.Ser881=
XM_017009485.1:c.2565T>G	XP_016864974.1:p.Ser855=
XR_001742068.2:n.3085T>G
NM_005921.2:c.3054T>G MANE Select	NP_005912.1:p.Ser1018=