Canonical Allele Identifier: CA3273105
Gene: MAP3K1 HGNC NCBI

Linked Data

dbSNP Id: rs766857345
gnomAD v2: 5-56178074-C-G
gnomAD v3: 5-56882247-C-G
gnomAD v4: 5-56882247-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56882247C>G , CM000667.2:g.56882247C>G GRCh38
NC_000005.9:g.56178074C>G , CM000667.1:g.56178074C>G GRCh37
NC_000005.8:g.56213831C>G NCBI36
NG_031884.1:g.72175C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.3047C>G MANE Select ENSP00000382423.3:p.Ser1016Cys
ENST00000399503.3:c.3047C>G ENSP00000382423.3:p.Ser1016Cys
NM_005921.1:c.3047C>G NP_005912.1:p.Ser1016Cys
XM_005248519.3:c.2669C>G XP_005248576.2:p.Ser890Cys
XM_011543406.1:c.2792C>G XP_011541708.1:p.Ser931Cys
XM_011543407.1:c.2768C>G XP_011541709.1:p.Ser923Cys
XM_011543408.1:c.3047C>G XP_011541710.1:p.Ser1016Cys
XM_017009484.1:c.2636C>G XP_016864973.1:p.Ser879Cys
XM_017009485.1:c.2558C>G XP_016864974.1:p.Ser853Cys
XR_001742068.2:n.3078C>G
NM_005921.2:c.3047C>G MANE Select NP_005912.1:p.Ser1016Cys