Canonical Allele Identifier: CA2187636672
Gene: CYP11A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74338282T>G , CM000677.2:g.74338282T>G GRCh38
NC_000015.9:g.74630623T>G , CM000677.1:g.74630623T>G GRCh37
NC_000015.8:g.72417676T>G NCBI36
NG_007973.1:g.34460A>C
NG_054754.1:g.140578T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.1435-179A>C MANE Select ENSP00000268053.6:n.1435-179A>C
ENST00000268053.10:c.1435-179A>C ENSP00000268053.6:n.1435-179A>C
ENST00000358632.8:c.961-179A>C ENSP00000351455.4:n.961-179A>C
ENST00000435365.5:c.*111-179A>C ENSP00000391081.1:n.*111-179A>C
ENST00000498141.1:n.528+38A>C
NM_000781.2:c.1435-179A>C NP_000772.2:n.1435-179A>C
NM_001099773.1:c.961-179A>C NP_001093243.1:n.961-179A>C
NM_000781.3:c.1435-179A>C MANE Select NP_000772.2:n.1435-179A>C
NM_001099773.2:c.961-179A>C NP_001093243.1:n.961-179A>C
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