Canonical Allele Identifier: CA405273846
Gene: CEBPA HGNC NCBI

Linked Data

ClinVar Variation Id: 526812
ClinVar RCV Id: RCV000631430
dbSNP Id: rs1555741962

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33301460T>G , CM000681.2:g.33301460T>G GRCh38
NC_000019.9:g.33792366T>G , CM000681.1:g.33792366T>G GRCh37
NC_000019.8:g.38484206T>G NCBI36
NG_012022.1:g.6065A>C , LRG_456:g.6065A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000498907.3:c.955A>C MANE Select ENSP00000427514.1:p.Ser319Arg
ENST00000498907.2:c.955A>C ENSP00000427514.1:p.Ser319Arg
NM_001285829.1:c.598A>C NP_001272758.1:p.Ser200Arg
NM_001287424.1:c.1060A>C NP_001274353.1:p.Ser354Arg
NM_001287435.1:c.913A>C NP_001274364.1:p.Ser305Arg
NM_004364.4:c.955A>C NP_004355.2:p.Ser319Arg
NM_001287424.2:c.1060A>C NP_001274353.1:p.Ser354Arg
NM_004364.5:c.955A>C MANE Select NP_004355.2:p.Ser319Arg
NM_001285829.2:c.598A>C NP_001272758.1:p.Ser200Arg
NM_001287435.2:c.913A>C NP_001274364.1:p.Ser305Arg