Canonical Allele Identifier: CA393147129
Gene: CYP11A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.74632019C>G (hg19) chr15:g.74339678C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339678C>G , CM000677.2:g.74339678C>G GRCh38
NC_000015.9:g.74632019C>G , CM000677.1:g.74632019C>G GRCh37
NC_000015.8:g.72419072C>G NCBI36
NG_007973.1:g.33064G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.1066G>C MANE Select ENSP00000268053.6:p.Val356Leu
ENST00000268053.10:c.1066G>C ENSP00000268053.6:p.Val356Leu
ENST00000358632.8:c.592G>C ENSP00000351455.4:p.Val198Leu
ENST00000435365.5:c.1066G>C ENSP00000391081.1:p.Val356Leu
ENST00000566674.5:c.592G>C ENSP00000456941.1:p.Val198Leu
NM_000781.2:c.1066G>C NP_000772.2:p.Val356Leu
NM_001099773.1:c.592G>C NP_001093243.1:p.Val198Leu
NM_000781.3:c.1066G>C MANE Select NP_000772.2:p.Val356Leu
NM_001099773.2:c.592G>C NP_001093243.1:p.Val198Leu
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