Canonical Allele Identifier: CA393146976
Gene: CYP11A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339603T>C , CM000677.2:g.74339603T>C GRCh38
NC_000015.9:g.74631944T>C , CM000677.1:g.74631944T>C GRCh37
NC_000015.8:g.72418997T>C NCBI36
NG_007973.1:g.33139A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.1141A>G MANE Select ENSP00000268053.6:p.Ile381Val
ENST00000268053.10:c.1141A>G ENSP00000268053.6:p.Ile381Val
ENST00000358632.8:c.667A>G ENSP00000351455.4:p.Ile223Val
ENST00000435365.5:c.1141A>G ENSP00000391081.1:p.Ile381Val
ENST00000566674.5:c.667A>G ENSP00000456941.1:p.Ile223Val
NM_000781.2:c.1141A>G NP_000772.2:p.Ile381Val
NM_001099773.1:c.667A>G NP_001093243.1:p.Ile223Val
NM_000781.3:c.1141A>G MANE Select NP_000772.2:p.Ile381Val
NM_001099773.2:c.667A>G NP_001093243.1:p.Ile223Val