Canonical Allele Identifier: CA272796195

Gene: CYP11A1

Linked Data

• dbSNP Id: rs78514385
• gnomAD v2: 15-74640152-C-T
• gnomAD v3: 15-74347811-C-T
• gnomAD v4: 15-74347811-C-T
• MyVariant Identifiers: chr15:g.74640152C>T (hg19) ; chr15:g.74347811C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74347811C>T , CM000677.2:g.74347811C>T	GRCh38
NC_000015.9:g.74640152C>T , CM000677.1:g.74640152C>T	GRCh37
NC_000015.8:g.72427205C>T	NCBI36
NG_007973.1:g.24931G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000268053.11:c.425+89G>A MANE Select	ENSP00000268053.6:n.425+89G>A
ENST00000268053.10:c.425+89G>A	ENSP00000268053.6:n.425+89G>A
ENST00000358632.8:c.-50+89G>A	ENSP00000351455.4:n.-50+89G>A
ENST00000416978.1:c.425+89G>A	ENSP00000388018.1:n.425+89G>A
ENST00000435365.5:c.425+89G>A	ENSP00000391081.1:n.425+89G>A
ENST00000450547.1:c.-50+89G>A	ENSP00000402064.1:n.-50+89G>A
ENST00000466978.1:n.819+89G>A
ENST00000566674.5:c.-50+89G>A	ENSP00000456941.1:n.-50+89G>A
ENST00000569662.1:c.-49-2568G>A	ENSP00000456598.1:n.-49-2568G>A
NM_000781.2:c.425+89G>A	NP_000772.2:n.425+89G>A
NM_001099773.1:c.-50+89G>A	NP_001093243.1:n.-50+89G>A
NM_000781.3:c.425+89G>A MANE Select	NP_000772.2:n.425+89G>A
NM_001099773.2:c.-50+89G>A	NP_001093243.1:n.-50+89G>A