Canonical Allele Identifier: CA393147280

Gene: CYP11A1

Linked Data

• dbSNP Id: rs2060598002
• MyVariant Identifiers: chr15:g.74632088T>C (hg19) ; chr15:g.74339747T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74339747T>C , CM000677.2:g.74339747T>C	GRCh38
NC_000015.9:g.74632088T>C , CM000677.1:g.74632088T>C	GRCh37
NC_000015.8:g.72419141T>C	NCBI36
NG_007973.1:g.32995A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.997A>G MANE Select	ENSP00000268053.6:p.Met333Val
ENST00000268053.10:c.997A>G	ENSP00000268053.6:p.Met333Val
ENST00000358632.8:c.523A>G	ENSP00000351455.4:p.Met175Val
ENST00000435365.5:c.997A>G	ENSP00000391081.1:p.Met333Val
ENST00000566674.5:c.523A>G	ENSP00000456941.1:p.Met175Val
NM_000781.2:c.997A>G	NP_000772.2:p.Met333Val
NM_001099773.1:c.523A>G	NP_001093243.1:p.Met175Val
NM_000781.3:c.997A>G MANE Select	NP_000772.2:p.Met333Val
NM_001099773.2:c.523A>G	NP_001093243.1:p.Met175Val