Canonical Allele Identifier: CA393147146
Gene: CYP11A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339687G>C , CM000677.2:g.74339687G>C GRCh38
NC_000015.9:g.74632028G>C , CM000677.1:g.74632028G>C GRCh37
NC_000015.8:g.72419081G>C NCBI36
NG_007973.1:g.33055C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.1057C>G MANE Select ENSP00000268053.6:p.Arg353Gly
ENST00000268053.10:c.1057C>G ENSP00000268053.6:p.Arg353Gly
ENST00000358632.8:c.583C>G ENSP00000351455.4:p.Arg195Gly
ENST00000435365.5:c.1057C>G ENSP00000391081.1:p.Arg353Gly
ENST00000566674.5:c.583C>G ENSP00000456941.1:p.Arg195Gly
NM_000781.2:c.1057C>G NP_000772.2:p.Arg353Gly
NM_001099773.1:c.583C>G NP_001093243.1:p.Arg195Gly
NM_000781.3:c.1057C>G MANE Select NP_000772.2:p.Arg353Gly
NM_001099773.2:c.583C>G NP_001093243.1:p.Arg195Gly