Canonical Allele Identifier: CA2187638078
Gene: CYP11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339769G= , CM000677.2:g.74339769G= GRCh38
NC_000015.9:g.74632110G= , CM000677.1:g.74632110G= GRCh37
NC_000015.8:g.72419163G= NCBI36
NG_007973.1:g.32973C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.991-16C= MANE Select ENSP00000268053.6:n.991-16C=
ENST00000268053.10:c.991-16C= ENSP00000268053.6:n.991-16C=
ENST00000358632.8:c.517-16C= ENSP00000351455.4:n.517-16C=
ENST00000435365.5:c.991-16C= ENSP00000391081.1:n.991-16C=
ENST00000566674.5:c.517-16C= ENSP00000456941.1:n.517-16C=
NM_000781.2:c.991-16C= NP_000772.2:n.991-16C=
NM_001099773.1:c.517-16C= NP_001093243.1:n.517-16C=
NM_000781.3:c.991-16C= MANE Select NP_000772.2:n.991-16C=
NM_001099773.2:c.517-16C= NP_001093243.1:n.517-16C=