Canonical Allele Identifier: CA119073502
Gene: MAP3K1 HGNC NCBI

Linked Data

dbSNP Id: rs1022647978
gnomAD v3: 5-56875396-G-T
gnomAD v4: 5-56875396-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56875396G>T , CM000667.2:g.56875396G>T GRCh38
NC_000005.9:g.56171223G>T , CM000667.1:g.56171223G>T GRCh37
NC_000005.8:g.56206980G>T NCBI36
NG_031884.1:g.65324G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.1965+86G>T MANE Select ENSP00000382423.3:n.1965+86G>T
ENST00000399503.3:c.1965+86G>T ENSP00000382423.3:n.1965+86G>T
NM_005921.1:c.1965+86G>T NP_005912.1:n.1965+86G>T
XM_005248519.3:c.1587+86G>T XP_005248576.2:n.1587+86G>T
XM_011543406.1:c.1710+86G>T XP_011541708.1:n.1710+86G>T
XM_011543407.1:c.1686+2391G>T XP_011541709.1:n.1686+2391G>T
XM_011543408.1:c.1965+86G>T XP_011541710.1:n.1965+86G>T
XM_017009484.1:c.1554+86G>T XP_016864973.1:n.1554+86G>T
XM_017009485.1:c.1476+86G>T XP_016864974.1:n.1476+86G>T
XR_001742068.2:n.1996+86G>T
NM_005921.2:c.1965+86G>T MANE Select NP_005912.1:n.1965+86G>T