Canonical Allele Identifier: CA3272609
Gene: MAP3K1 HGNC NCBI

Linked Data

dbSNP Id: rs532941102
gnomAD v2: 5-56155691-A-G
gnomAD v3: 5-56859864-A-G
gnomAD v4: 5-56859864-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56859864A>G , CM000667.2:g.56859864A>G GRCh38
NC_000005.9:g.56155691A>G , CM000667.1:g.56155691A>G GRCh37
NC_000005.8:g.56191448A>G NCBI36
NG_031884.1:g.49792A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000399503.4:c.783A>G MANE Select ENSP00000382423.3:p.Thr261=
ENST00000399503.3:c.783A>G ENSP00000382423.3:p.Thr261=
NM_005921.1:c.783A>G NP_005912.1:p.Thr261=
XM_005248519.3:c.405A>G XP_005248576.2:p.Thr135=
XM_011543406.1:c.528A>G XP_011541708.1:p.Thr176=
XM_011543407.1:c.783A>G XP_011541709.1:p.Thr261=
XM_011543408.1:c.783A>G XP_011541710.1:p.Thr261=
XM_017009484.1:c.372A>G XP_016864973.1:p.Thr124=
XM_017009485.1:c.294A>G XP_016864974.1:p.Thr98=
XR_001742068.2:n.814A>G
NM_005921.2:c.783A>G MANE Select NP_005912.1:p.Thr261=