Canonical Allele Identifier: CA2187637981
Gene: CYP11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339685C= , CM000677.2:g.74339685C= GRCh38
NC_000015.9:g.74632026C= , CM000677.1:g.74632026C= GRCh37
NC_000015.8:g.72419079C= NCBI36
NG_007973.1:g.33057G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.1059G= MANE Select ENSP00000268053.6:p.Arg353=
ENST00000268053.10:c.1059G= ENSP00000268053.6:p.Arg353=
ENST00000358632.8:c.585G= ENSP00000351455.4:p.Arg195=
ENST00000435365.5:c.1059G= ENSP00000391081.1:p.Arg353=
ENST00000566674.5:c.585G= ENSP00000456941.1:p.Arg195=
NM_000781.2:c.1059G= NP_000772.2:p.Arg353=
NM_001099773.1:c.585G= NP_001093243.1:p.Arg195=
NM_000781.3:c.1059G= MANE Select NP_000772.2:p.Arg353=
NM_001099773.2:c.585G= NP_001093243.1:p.Arg195=