Canonical Allele Identifier: CA2187642212
Community Standard Title: NM_000781.3(CYP11A1):c.566C= (p.Ala189=)
Gene: CYP11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74345103G= , CM000677.2:g.74345103G= GRCh38
NC_000015.9:g.74637444G= , CM000677.1:g.74637444G= GRCh37
NC_000015.8:g.72424497G= NCBI36
NG_007973.1:g.27639C=

Transcript Alleles

HGVS Amino-acid Change
NM_000781.3:c.566C= MANE Select NP_000772.2:p.Ala189=
ENST00000268053.11:c.566C= MANE Select ENSP00000268053.6:p.Ala189=
NM_000781.2:c.566C= NP_000772.2:p.Ala189=
NM_001099773.1:c.92C= NP_001093243.1:p.Ala31=
NM_001099773.2:c.92C= NP_001093243.1:p.Ala31=
ENST00000268053.10:c.566C= ENSP00000268053.6:p.Ala189=
ENST00000358632.8:c.92C= ENSP00000351455.4:p.Ala31=
ENST00000435365.5:c.566C= ENSP00000391081.1:p.Ala189=
ENST00000450547.1:c.92C= ENSP00000402064.1:p.Ala31=
ENST00000566674.5:c.92C= ENSP00000456941.1:p.Ala31=