Canonical Allele Identifier: CA491195817
Gene: CYP11A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.74640354A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74348013A>T , CM000677.2:g.74348013A>T GRCh38
NC_000015.9:g.74640354A>T , CM000677.1:g.74640354A>T GRCh37
NC_000015.8:g.72427407A>T NCBI36
NG_007973.1:g.24729T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.312T>A MANE Select ENSP00000268053.6:p.Pro104=
ENST00000268053.10:c.312T>A ENSP00000268053.6:p.Pro104=
ENST00000358632.8:c.-163T>A ENSP00000351455.4:n.-163T>A
ENST00000416978.1:c.312T>A ENSP00000388018.1:p.Pro104=
ENST00000435365.5:c.312T>A ENSP00000391081.1:p.Pro104=
ENST00000450547.1:c.-163T>A ENSP00000402064.1:n.-163T>A
ENST00000466978.1:n.706T>A
ENST00000566674.5:c.-163T>A ENSP00000456941.1:n.-163T>A
ENST00000569662.1:c.-49-2770T>A ENSP00000456598.1:n.-49-2770T>A
NM_000781.2:c.312T>A NP_000772.2:p.Pro104=
NM_001099773.1:c.-163T>A NP_001093243.1:n.-163T>A
NM_000781.3:c.312T>A MANE Select NP_000772.2:p.Pro104=
NM_001099773.2:c.-163T>A NP_001093243.1:n.-163T>A