Canonical Allele Identifier: CA2187637881
Gene: CYP11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339595C= , CM000677.2:g.74339595C= GRCh38
NC_000015.9:g.74631936C= , CM000677.1:g.74631936C= GRCh37
NC_000015.8:g.72418989C= NCBI36
NG_007973.1:g.33147G=

Transcript Alleles

HGVS Amino-acid change
ENST00000268053.11:c.1149G= MANE Select ENSP00000268053.6:p.Glu383=
ENST00000268053.10:c.1149G= ENSP00000268053.6:p.Glu383=
ENST00000358632.8:c.675G= ENSP00000351455.4:p.Glu225=
ENST00000435365.5:c.1149G= ENSP00000391081.1:p.Glu383=
ENST00000566674.5:c.675G= ENSP00000456941.1:p.Glu225=
NM_000781.2:c.1149G= NP_000772.2:p.Glu383=
NM_001099773.1:c.675G= NP_001093243.1:p.Glu225=
NM_000781.3:c.1149G= MANE Select NP_000772.2:p.Glu383=
NM_001099773.2:c.675G= NP_001093243.1:p.Glu225=