Canonical Allele Identifier: CA127238

Gene: CYP11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74345103G>A , CM000677.2:g.74345103G>A	GRCh38
NC_000015.9:g.74637444G>A , CM000677.1:g.74637444G>A	GRCh37
NC_000015.8:g.72424497G>A	NCBI36
NG_007973.1:g.27639C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000781.3:c.566C>T MANE Select	NP_000772.2:p.Ala189Val
ENST00000268053.11:c.566C>T MANE Select	ENSP00000268053.6:p.Ala189Val
NM_000781.2:c.566C>T	NP_000772.2:p.Ala189Val
NM_001099773.1:c.92C>T	NP_001093243.1:p.Ala31Val
NM_001099773.2:c.92C>T	NP_001093243.1:p.Ala31Val
ENST00000268053.10:c.566C>T	ENSP00000268053.6:p.Ala189Val
ENST00000358632.8:c.92C>T	ENSP00000351455.4:p.Ala31Val
ENST00000435365.5:c.566C>T	ENSP00000391081.1:p.Ala189Val
ENST00000450547.1:c.92C>T	ENSP00000402064.1:p.Ala31Val
ENST00000566674.5:c.92C>T	ENSP00000456941.1:p.Ala31Val