Canonical Allele Identifier: CA393146961
Gene: CYP11A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.74631938C>G (hg19) chr15:g.74339597C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339597C>G , CM000677.2:g.74339597C>G GRCh38
NC_000015.9:g.74631938C>G , CM000677.1:g.74631938C>G GRCh37
NC_000015.8:g.72418991C>G NCBI36
NG_007973.1:g.33145G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000268053.11:c.1147G>C MANE Select ENSP00000268053.6:p.Glu383Gln
ENST00000268053.10:c.1147G>C ENSP00000268053.6:p.Glu383Gln
ENST00000358632.8:c.673G>C ENSP00000351455.4:p.Glu225Gln
ENST00000435365.5:c.1147G>C ENSP00000391081.1:p.Glu383Gln
ENST00000566674.5:c.673G>C ENSP00000456941.1:p.Glu225Gln
NM_000781.2:c.1147G>C NP_000772.2:p.Glu383Gln
NM_001099773.1:c.673G>C NP_001093243.1:p.Glu225Gln
NM_000781.3:c.1147G>C MANE Select NP_000772.2:p.Glu383Gln
NM_001099773.2:c.673G>C NP_001093243.1:p.Glu225Gln
Search 100 bp 5'
Search 100 bp 3'