Canonical Allele Identifier: CA491194410

Gene: CYP11A1

Linked Data

• dbSNP Id: rs2060597539
• MyVariant Identifiers: chr15:g.74632023T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74339682T>A , CM000677.2:g.74339682T>A	GRCh38
NC_000015.9:g.74632023T>A , CM000677.1:g.74632023T>A	GRCh37
NC_000015.8:g.72419076T>A	NCBI36
NG_007973.1:g.33060A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.1062A>T MANE Select	ENSP00000268053.6:p.Ala354=
ENST00000268053.10:c.1062A>T	ENSP00000268053.6:p.Ala354=
ENST00000358632.8:c.588A>T	ENSP00000351455.4:p.Ala196=
ENST00000435365.5:c.1062A>T	ENSP00000391081.1:p.Ala354=
ENST00000566674.5:c.588A>T	ENSP00000456941.1:p.Ala196=
NM_000781.2:c.1062A>T	NP_000772.2:p.Ala354=
NM_001099773.1:c.588A>T	NP_001093243.1:p.Ala196=
NM_000781.3:c.1062A>T MANE Select	NP_000772.2:p.Ala354=
NM_001099773.2:c.588A>T	NP_001093243.1:p.Ala196=