Canonical Allele Identifier: CA3272576
Gene: MAP3K1 HGNC NCBI

Linked Data

dbSNP Id: rs752066419
gnomAD v2: 5-56155504-T-A
gnomAD v3: 5-56859677-T-A
gnomAD v4: 5-56859677-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56859677T>A , CM000667.2:g.56859677T>A GRCh38
NC_000005.9:g.56155504T>A , CM000667.1:g.56155504T>A GRCh37
NC_000005.8:g.56191261T>A NCBI36
NG_031884.1:g.49605T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.634-38T>A MANE Select ENSP00000382423.3:n.634-38T>A
ENST00000399503.3:c.634-38T>A ENSP00000382423.3:n.634-38T>A
NM_005921.1:c.634-38T>A NP_005912.1:n.634-38T>A
XM_005248519.3:c.256-38T>A XP_005248576.2:n.256-38T>A
XM_011543406.1:c.379-38T>A XP_011541708.1:n.379-38T>A
XM_011543407.1:c.634-38T>A XP_011541709.1:n.634-38T>A
XM_011543408.1:c.634-38T>A XP_011541710.1:n.634-38T>A
XM_017009484.1:c.223-38T>A XP_016864973.1:n.223-38T>A
XM_017009485.1:c.145-38T>A XP_016864974.1:n.145-38T>A
XR_001742068.2:n.665-38T>A
NM_005921.2:c.634-38T>A MANE Select NP_005912.1:n.634-38T>A