Canonical Allele Identifier: CA444391651
Gene: MAP3K1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.56155598T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56859771T>G , CM000667.2:g.56859771T>G GRCh38
NC_000005.9:g.56155598T>G , CM000667.1:g.56155598T>G GRCh37
NC_000005.8:g.56191355T>G NCBI36
NG_031884.1:g.49699T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.690T>G MANE Select ENSP00000382423.3:p.Ala230=
ENST00000399503.3:c.690T>G ENSP00000382423.3:p.Ala230=
NM_005921.1:c.690T>G NP_005912.1:p.Ala230=
XM_005248519.3:c.312T>G XP_005248576.2:p.Ala104=
XM_011543406.1:c.435T>G XP_011541708.1:p.Ala145=
XM_011543407.1:c.690T>G XP_011541709.1:p.Ala230=
XM_011543408.1:c.690T>G XP_011541710.1:p.Ala230=
XM_017009484.1:c.279T>G XP_016864973.1:p.Ala93=
XM_017009485.1:c.201T>G XP_016864974.1:p.Ala67=
XR_001742068.2:n.721T>G
NM_005921.2:c.690T>G MANE Select NP_005912.1:p.Ala230=