Canonical Allele Identifier: CA444391746
Gene: MAP3K1 HGNC NCBI

Linked Data

dbSNP Id: rs532941102
gnomAD v4: 5-56859864-A-C
MyVariant Identifiers: chr5:g.56155691A>C (hg19)

Genomic Alleles

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

Transcript Alleles

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