Canonical Allele Identifier: CA10335536
Community Standard Title: NM_001171136.2(ZBED1):c.1982A>C (p.Asp661Ala)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.2488738T>G , CM000685.2:g.2488738T>G GRCh38
NC_000023.10:g.2406779T>G , CM000685.1:g.2406779T>G GRCh37
NC_000023.9:g.2416779T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000334651.11:c.109+12079A>C (DHRSX) MANE Select ENSP00000334113.5:n.109+12079A>C
ENST00000652001.1:c.1982A>C (ZBED1) MANE Select ENSP00000498725.1:p.Asp661Ala
ENST00000334651.10:c.109+12079A>C (DHRSX) ENSP00000334113.5:n.109+12079A>C
ENST00000381218.8:c.1982A>C (ZBED1) ENSP00000370616.3:p.Asp661Ala
ENST00000381222.7:c.1982A>C (ZBED1) ENSP00000370620.2:p.Asp661Ala
ENST00000381222.8:c.1982A>C (ZBED1) ENSP00000370620.2:p.Asp661Ala
ENST00000381223.9:c.1982A>C (ZBED1) ENSP00000370621.4:p.Asp661Ala
ENST00000412516.7:c.109+12079A>C (DHRSX) ENSP00000391778.2:n.109+12079A>C
ENST00000430536.7:n.144+12079A>C (DHRSX)
ENST00000441131.7:c.7+14023A>C (DHRSX) ENSP00000403045.2:n.7+14023A>C
ENST00000444280.6:c.-93+11573A>C (DHRSX) ENSP00000402741.1:n.-93+11573A>C
ENST00000478825.6:c.279+11573A>C (DHRSX)
ENST00000478825.7:c.-328+11573A>C (DHRSX) ENSP00000420788.2:n.-328+11573A>C
ENST00000515319.6:n.184+50A>C (ZBED1)