Canonical Allele Identifier: CA272787210

Gene: CYP11A1

Linked Data

• dbSNP Id: rs547437424
• gnomAD v3: 15-74339856-T-C
• gnomAD v4: 15-74339856-T-C
• MyVariant Identifiers: chr15:g.74632197T>C (hg19) ; chr15:g.74339856T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74339856T>C , CM000677.2:g.74339856T>C	GRCh38
NC_000015.9:g.74632197T>C , CM000677.1:g.74632197T>C	GRCh37
NC_000015.8:g.72419250T>C	NCBI36
NG_007973.1:g.32886A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.991-103A>G MANE Select	ENSP00000268053.6:n.991-103A>G
ENST00000268053.10:c.991-103A>G	ENSP00000268053.6:n.991-103A>G
ENST00000358632.8:c.517-103A>G	ENSP00000351455.4:n.517-103A>G
ENST00000435365.5:c.991-103A>G	ENSP00000391081.1:n.991-103A>G
ENST00000566674.5:c.517-103A>G	ENSP00000456941.1:n.517-103A>G
NM_000781.2:c.991-103A>G	NP_000772.2:n.991-103A>G
NM_001099773.1:c.517-103A>G	NP_001093243.1:n.517-103A>G
NM_000781.3:c.991-103A>G MANE Select	NP_000772.2:n.991-103A>G
NM_001099773.2:c.517-103A>G	NP_001093243.1:n.517-103A>G