Canonical Allele Identifier: CA491193396
Gene: CYP11A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.74631101C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74338760C>G , CM000677.2:g.74338760C>G GRCh38
NC_000015.9:g.74631101C>G , CM000677.1:g.74631101C>G GRCh37
NC_000015.8:g.72418154C>G NCBI36
NG_007973.1:g.33982G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.1245G>C MANE Select ENSP00000268053.6:p.Val415=
ENST00000268053.10:c.1245G>C ENSP00000268053.6:p.Val415=
ENST00000358632.8:c.771G>C ENSP00000351455.4:p.Val257=
ENST00000435365.5:c.1166G>C ENSP00000391081.1:p.Cys389Ser
ENST00000498141.1:n.88G>C
NM_000781.2:c.1245G>C NP_000772.2:p.Val415=
NM_001099773.1:c.771G>C NP_001093243.1:p.Val257=
NM_000781.3:c.1245G>C MANE Select NP_000772.2:p.Val415=
NM_001099773.2:c.771G>C NP_001093243.1:p.Val257=