Canonical Allele Identifier: CA2739269572
Gene: CYP11A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2846250
ClinVar RCV Id: RCV003687788
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339574G>T , CM000677.2:g.74339574G>T GRCh38
NC_000015.9:g.74631915G>T , CM000677.1:g.74631915G>T GRCh37
NC_000015.8:g.72418968G>T NCBI36
NG_007973.1:g.33168C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000268053.11:c.1157+13C>A MANE Select ENSP00000268053.6:n.1157+13C>A
ENST00000268053.10:c.1157+13C>A ENSP00000268053.6:n.1157+13C>A
ENST00000358632.8:c.683+13C>A ENSP00000351455.4:n.683+13C>A
ENST00000435365.5:c.1157+13C>A ENSP00000391081.1:n.1157+13C>A
NM_000781.2:c.1157+13C>A NP_000772.2:n.1157+13C>A
NM_001099773.1:c.683+13C>A NP_001093243.1:n.683+13C>A
NM_000781.3:c.1157+13C>A MANE Select NP_000772.2:n.1157+13C>A
NM_001099773.2:c.683+13C>A NP_001093243.1:n.683+13C>A
Search 100 bp 5'
Search 100 bp 3'