Canonical Allele Identifier: CA3273041
Gene: MAP3K1 HGNC NCBI

Linked Data

dbSNP Id: rs777039063
gnomAD v2: 5-56177695-C-G
gnomAD v3: 5-56881868-C-G
gnomAD v4: 5-56881868-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56881868C>G , CM000667.2:g.56881868C>G GRCh38
NC_000005.9:g.56177695C>G , CM000667.1:g.56177695C>G GRCh37
NC_000005.8:g.56213452C>G NCBI36
NG_031884.1:g.71796C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.2668C>G MANE Select ENSP00000382423.3:p.Pro890Ala
ENST00000399503.3:c.2668C>G ENSP00000382423.3:p.Pro890Ala
NM_005921.1:c.2668C>G NP_005912.1:p.Pro890Ala
XM_005248519.3:c.2290C>G XP_005248576.2:p.Pro764Ala
XM_011543406.1:c.2413C>G XP_011541708.1:p.Pro805Ala
XM_011543407.1:c.2389C>G XP_011541709.1:p.Pro797Ala
XM_011543408.1:c.2668C>G XP_011541710.1:p.Pro890Ala
XM_017009484.1:c.2257C>G XP_016864973.1:p.Pro753Ala
XM_017009485.1:c.2179C>G XP_016864974.1:p.Pro727Ala
XR_001742068.2:n.2699C>G
NM_005921.2:c.2668C>G MANE Select NP_005912.1:p.Pro890Ala