Canonical Allele Identifier: CA393147293
Gene: CYP11A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339754C>A , CM000677.2:g.74339754C>A GRCh38
NC_000015.9:g.74632095C>A , CM000677.1:g.74632095C>A GRCh37
NC_000015.8:g.72419148C>A NCBI36
NG_007973.1:g.32988G>T

Transcript Alleles

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