Canonical Allele Identifier: CA2187643718
Gene: CYP11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74347843C= , CM000677.2:g.74347843C= GRCh38
NC_000015.9:g.74640184C= , CM000677.1:g.74640184C= GRCh37
NC_000015.8:g.72427237C= NCBI36
NG_007973.1:g.24899G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.425+57G= MANE Select ENSP00000268053.6:n.425+57G=
ENST00000268053.10:c.425+57G= ENSP00000268053.6:n.425+57G=
ENST00000358632.8:c.-50+57G= ENSP00000351455.4:n.-50+57G=
ENST00000416978.1:c.425+57G= ENSP00000388018.1:n.425+57G=
ENST00000435365.5:c.425+57G= ENSP00000391081.1:n.425+57G=
ENST00000450547.1:c.-50+57G= ENSP00000402064.1:n.-50+57G=
ENST00000466978.1:n.819+57G=
ENST00000566674.5:c.-50+57G= ENSP00000456941.1:n.-50+57G=
ENST00000569662.1:c.-49-2600G= ENSP00000456598.1:n.-49-2600G=
NM_000781.2:c.425+57G= NP_000772.2:n.425+57G=
NM_001099773.1:c.-50+57G= NP_001093243.1:n.-50+57G=
NM_000781.3:c.425+57G= MANE Select NP_000772.2:n.425+57G=
NM_001099773.2:c.-50+57G= NP_001093243.1:n.-50+57G=