Canonical Allele Identifier: CA393147159

Gene: CYP11A1

Linked Data

• dbSNP Id: rs1207956071
• gnomAD v2: 15-74632034-T-C
• gnomAD v4: 15-74339693-T-C
• MyVariant Identifiers: chr15:g.74632034T>C (hg19) ; chr15:g.74339693T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74339693T>C , CM000677.2:g.74339693T>C	GRCh38
NC_000015.9:g.74632034T>C , CM000677.1:g.74632034T>C	GRCh37
NC_000015.8:g.72419087T>C	NCBI36
NG_007973.1:g.33049A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000268053.11:c.1051A>G MANE Select	ENSP00000268053.6:p.Met351Val
ENST00000268053.10:c.1051A>G	ENSP00000268053.6:p.Met351Val
ENST00000358632.8:c.577A>G	ENSP00000351455.4:p.Met193Val
ENST00000435365.5:c.1051A>G	ENSP00000391081.1:p.Met351Val
ENST00000566674.5:c.577A>G	ENSP00000456941.1:p.Met193Val
NM_000781.2:c.1051A>G	NP_000772.2:p.Met351Val
NM_001099773.1:c.577A>G	NP_001093243.1:p.Met193Val
NM_000781.3:c.1051A>G MANE Select	NP_000772.2:p.Met351Val
NM_001099773.2:c.577A>G	NP_001093243.1:p.Met193Val