Canonical Allele Identifier: CA2187643650
Gene: CYP11A1 HGNC NCBI

Linked Data

dbSNP Id: rs2060638545

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74347693T>C , CM000677.2:g.74347693T>C GRCh38
NC_000015.9:g.74640034T>C , CM000677.1:g.74640034T>C GRCh37
NC_000015.8:g.72427087T>C NCBI36
NG_007973.1:g.25049A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.425+207A>G MANE Select ENSP00000268053.6:n.425+207A>G
ENST00000268053.10:c.425+207A>G ENSP00000268053.6:n.425+207A>G
ENST00000358632.8:c.-50+207A>G ENSP00000351455.4:n.-50+207A>G
ENST00000416978.1:c.425+207A>G ENSP00000388018.1:n.425+207A>G
ENST00000435365.5:c.425+207A>G ENSP00000391081.1:n.425+207A>G
ENST00000450547.1:c.-50+207A>G ENSP00000402064.1:n.-50+207A>G
ENST00000466978.1:n.819+207A>G
ENST00000566674.5:c.-50+207A>G ENSP00000456941.1:n.-50+207A>G
ENST00000569662.1:c.-49-2450A>G ENSP00000456598.1:n.-49-2450A>G
NM_000781.2:c.425+207A>G NP_000772.2:n.425+207A>G
NM_001099773.1:c.-50+207A>G NP_001093243.1:n.-50+207A>G
NM_000781.3:c.425+207A>G MANE Select NP_000772.2:n.425+207A>G
NM_001099773.2:c.-50+207A>G NP_001093243.1:n.-50+207A>G