Canonical Allele Identifier: CA359786592
Gene: MAP3K1 HGNC NCBI

Linked Data

dbSNP Id: rs1237166927
gnomAD v3: 5-56881969-T-G
gnomAD v4: 5-56881969-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56881969T>G , CM000667.2:g.56881969T>G GRCh38
NC_000005.9:g.56177796T>G , CM000667.1:g.56177796T>G GRCh37
NC_000005.8:g.56213553T>G NCBI36
NG_031884.1:g.71897T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.2769T>G MANE Select ENSP00000382423.3:p.Ser923Arg
ENST00000399503.3:c.2769T>G ENSP00000382423.3:p.Ser923Arg
NM_005921.1:c.2769T>G NP_005912.1:p.Ser923Arg
XM_005248519.3:c.2391T>G XP_005248576.2:p.Ser797Arg
XM_011543406.1:c.2514T>G XP_011541708.1:p.Ser838Arg
XM_011543407.1:c.2490T>G XP_011541709.1:p.Ser830Arg
XM_011543408.1:c.2769T>G XP_011541710.1:p.Ser923Arg
XM_017009484.1:c.2358T>G XP_016864973.1:p.Ser786Arg
XM_017009485.1:c.2280T>G XP_016864974.1:p.Ser760Arg
XR_001742068.2:n.2800T>G
NM_005921.2:c.2769T>G MANE Select NP_005912.1:p.Ser923Arg