Canonical Allele Identifier: CA272787256
Gene: CYP11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339902C>T , CM000677.2:g.74339902C>T GRCh38
NC_000015.9:g.74632243C>T , CM000677.1:g.74632243C>T GRCh37
NC_000015.8:g.72419296C>T NCBI36
NG_007973.1:g.32840G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000781.3:c.991-149G>A MANE Select NP_000772.2:n.991-149G>A
ENST00000268053.11:c.991-149G>A MANE Select ENSP00000268053.6:n.991-149G>A
NM_000781.2:c.991-149G>A NP_000772.2:n.991-149G>A
NM_001099773.1:c.517-149G>A NP_001093243.1:n.517-149G>A
NM_001099773.2:c.517-149G>A NP_001093243.1:n.517-149G>A
ENST00000268053.10:c.991-149G>A ENSP00000268053.6:n.991-149G>A
ENST00000358632.8:c.517-149G>A ENSP00000351455.4:n.517-149G>A
ENST00000435365.5:c.991-149G>A ENSP00000391081.1:n.991-149G>A
ENST00000566674.5:c.517-149G>A ENSP00000456941.1:n.517-149G>A