Canonical Allele Identifier: CA359787496
Gene: MAP3K1 HGNC NCBI

Linked Data

gnomAD v4: 5-56882226-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56882226T>C , CM000667.2:g.56882226T>C GRCh38
NC_000005.9:g.56178053T>C , CM000667.1:g.56178053T>C GRCh37
NC_000005.8:g.56213810T>C NCBI36
NG_031884.1:g.72154T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.3026T>C MANE Select ENSP00000382423.3:p.Phe1009Ser
ENST00000399503.3:c.3026T>C ENSP00000382423.3:p.Phe1009Ser
NM_005921.1:c.3026T>C NP_005912.1:p.Phe1009Ser
XM_005248519.3:c.2648T>C XP_005248576.2:p.Phe883Ser
XM_011543406.1:c.2771T>C XP_011541708.1:p.Phe924Ser
XM_011543407.1:c.2747T>C XP_011541709.1:p.Phe916Ser
XM_011543408.1:c.3026T>C XP_011541710.1:p.Phe1009Ser
XM_017009484.1:c.2615T>C XP_016864973.1:p.Phe872Ser
XM_017009485.1:c.2537T>C XP_016864974.1:p.Phe846Ser
XR_001742068.2:n.3057T>C
NM_005921.2:c.3026T>C MANE Select NP_005912.1:p.Phe1009Ser