Canonical Allele Identifier: CA444399850
Gene: MAP3K1 HGNC NCBI

Linked Data

dbSNP Id: rs1275217453
gnomAD v3: 5-56882332-A-G
gnomAD v4: 5-56882332-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56882332A>G , CM000667.2:g.56882332A>G GRCh38
NC_000005.9:g.56178159A>G , CM000667.1:g.56178159A>G GRCh37
NC_000005.8:g.56213916A>G NCBI36
NG_031884.1:g.72260A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.3132A>G MANE Select ENSP00000382423.3:p.Pro1044=
ENST00000399503.3:c.3132A>G ENSP00000382423.3:p.Pro1044=
NM_005921.1:c.3132A>G NP_005912.1:p.Pro1044=
XM_005248519.3:c.2754A>G XP_005248576.2:p.Pro918=
XM_011543406.1:c.2877A>G XP_011541708.1:p.Pro959=
XM_011543407.1:c.2853A>G XP_011541709.1:p.Pro951=
XM_011543408.1:c.3132A>G XP_011541710.1:p.Pro1044=
XM_017009484.1:c.2721A>G XP_016864973.1:p.Pro907=
XM_017009485.1:c.2643A>G XP_016864974.1:p.Pro881=
XR_001742068.2:n.3163A>G
NM_005921.2:c.3132A>G MANE Select NP_005912.1:p.Pro1044=