Canonical Allele Identifier: CA2673908314
Gene: MAP3K1 HGNC NCBI

Linked Data

gnomAD v4: 5-56859572-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56859572A>G , CM000667.2:g.56859572A>G GRCh38
NC_000005.9:g.56155399A>G , CM000667.1:g.56155399A>G GRCh37
NC_000005.8:g.56191156A>G NCBI36
NG_031884.1:g.49500A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.634-143A>G MANE Select ENSP00000382423.3:n.634-143A>G
ENST00000399503.3:c.634-143A>G ENSP00000382423.3:n.634-143A>G
NM_005921.1:c.634-143A>G NP_005912.1:n.634-143A>G
XM_005248519.3:c.256-143A>G XP_005248576.2:n.256-143A>G
XM_011543406.1:c.379-143A>G XP_011541708.1:n.379-143A>G
XM_011543407.1:c.634-143A>G XP_011541709.1:n.634-143A>G
XM_011543408.1:c.634-143A>G XP_011541710.1:n.634-143A>G
XM_017009484.1:c.223-143A>G XP_016864973.1:n.223-143A>G
XM_017009485.1:c.145-143A>G XP_016864974.1:n.145-143A>G
XR_001742068.2:n.665-143A>G
NM_005921.2:c.634-143A>G MANE Select NP_005912.1:n.634-143A>G