Canonical Allele Identifier: CA359786199
Gene: MAP3K1 HGNC NCBI

Linked Data

dbSNP Id: rs1196032304
gnomAD v3: 5-56881826-A-T
gnomAD v4: 5-56881826-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56881826A>T , CM000667.2:g.56881826A>T GRCh38
NC_000005.9:g.56177653A>T , CM000667.1:g.56177653A>T GRCh37
NC_000005.8:g.56213410A>T NCBI36
NG_031884.1:g.71754A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.2626A>T MANE Select ENSP00000382423.3:p.Thr876Ser
ENST00000399503.3:c.2626A>T ENSP00000382423.3:p.Thr876Ser
NM_005921.1:c.2626A>T NP_005912.1:p.Thr876Ser
XM_005248519.3:c.2248A>T XP_005248576.2:p.Thr750Ser
XM_011543406.1:c.2371A>T XP_011541708.1:p.Thr791Ser
XM_011543407.1:c.2347A>T XP_011541709.1:p.Thr783Ser
XM_011543408.1:c.2626A>T XP_011541710.1:p.Thr876Ser
XM_017009484.1:c.2215A>T XP_016864973.1:p.Thr739Ser
XM_017009485.1:c.2137A>T XP_016864974.1:p.Thr713Ser
XR_001742068.2:n.2657A>T
NM_005921.2:c.2626A>T MANE Select NP_005912.1:p.Thr876Ser