Canonical Allele Identifier: CA491195430
Gene: CYP11A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.74640246C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74347905C>A , CM000677.2:g.74347905C>A GRCh38
NC_000015.9:g.74640246C>A , CM000677.1:g.74640246C>A GRCh37
NC_000015.8:g.72427299C>A NCBI36
NG_007973.1:g.24837G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.420G>T MANE Select ENSP00000268053.6:p.Leu140=
ENST00000268053.10:c.420G>T ENSP00000268053.6:p.Leu140=
ENST00000358632.8:c.-55G>T ENSP00000351455.4:n.-55G>T
ENST00000416978.1:c.420G>T ENSP00000388018.1:p.Leu140=
ENST00000435365.5:c.420G>T ENSP00000391081.1:p.Leu140=
ENST00000450547.1:c.-55G>T ENSP00000402064.1:n.-55G>T
ENST00000466978.1:n.814G>T
ENST00000566674.5:c.-55G>T ENSP00000456941.1:n.-55G>T
ENST00000569662.1:c.-49-2662G>T ENSP00000456598.1:n.-49-2662G>T
NM_000781.2:c.420G>T NP_000772.2:p.Leu140=
NM_001099773.1:c.-55G>T NP_001093243.1:n.-55G>T
NM_000781.3:c.420G>T MANE Select NP_000772.2:p.Leu140=
NM_001099773.2:c.-55G>T NP_001093243.1:n.-55G>T