Canonical Allele Identifier: CA491194421
Gene: CYP11A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.74632035A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339694A>G , CM000677.2:g.74339694A>G GRCh38
NC_000015.9:g.74632035A>G , CM000677.1:g.74632035A>G GRCh37
NC_000015.8:g.72419088A>G NCBI36
NG_007973.1:g.33048T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000268053.11:c.1050T>C MANE Select ENSP00000268053.6:p.Asp350=
ENST00000268053.10:c.1050T>C ENSP00000268053.6:p.Asp350=
ENST00000358632.8:c.576T>C ENSP00000351455.4:p.Asp192=
ENST00000435365.5:c.1050T>C ENSP00000391081.1:p.Asp350=
ENST00000566674.5:c.576T>C ENSP00000456941.1:p.Asp192=
NM_000781.2:c.1050T>C NP_000772.2:p.Asp350=
NM_001099773.1:c.576T>C NP_001093243.1:p.Asp192=
NM_000781.3:c.1050T>C MANE Select NP_000772.2:p.Asp350=
NM_001099773.2:c.576T>C NP_001093243.1:p.Asp192=