Canonical Allele Identifier: CA393147286
Gene: CYP11A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.74632091A>G (hg19) chr15:g.74339750A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339750A>G , CM000677.2:g.74339750A>G GRCh38
NC_000015.9:g.74632091A>G , CM000677.1:g.74632091A>G GRCh37
NC_000015.8:g.72419144A>G NCBI36
NG_007973.1:g.32992T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.994T>C MANE Select ENSP00000268053.6:p.Ser332Pro
ENST00000268053.10:c.994T>C ENSP00000268053.6:p.Ser332Pro
ENST00000358632.8:c.520T>C ENSP00000351455.4:p.Ser174Pro
ENST00000435365.5:c.994T>C ENSP00000391081.1:p.Ser332Pro
ENST00000566674.5:c.520T>C ENSP00000456941.1:p.Ser174Pro
NM_000781.2:c.994T>C NP_000772.2:p.Ser332Pro
NM_001099773.1:c.520T>C NP_001093243.1:p.Ser174Pro
NM_000781.3:c.994T>C MANE Select NP_000772.2:p.Ser332Pro
NM_001099773.2:c.520T>C NP_001093243.1:p.Ser174Pro
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