Canonical Allele Identifier: CA393147213
Gene: CYP11A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.74632060A>C (hg19) chr15:g.74339719A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339719A>C , CM000677.2:g.74339719A>C GRCh38
NC_000015.9:g.74632060A>C , CM000677.1:g.74632060A>C GRCh37
NC_000015.8:g.72419113A>C NCBI36
NG_007973.1:g.33023T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.1025T>G MANE Select ENSP00000268053.6:p.Met342Arg
ENST00000268053.10:c.1025T>G ENSP00000268053.6:p.Met342Arg
ENST00000358632.8:c.551T>G ENSP00000351455.4:p.Met184Arg
ENST00000435365.5:c.1025T>G ENSP00000391081.1:p.Met342Arg
ENST00000566674.5:c.551T>G ENSP00000456941.1:p.Met184Arg
NM_000781.2:c.1025T>G NP_000772.2:p.Met342Arg
NM_001099773.1:c.551T>G NP_001093243.1:p.Met184Arg
NM_000781.3:c.1025T>G MANE Select NP_000772.2:p.Met342Arg
NM_001099773.2:c.551T>G NP_001093243.1:p.Met184Arg
Search 100 bp 5'
Search 100 bp 3'