Canonical Allele Identifier: CA393147141
Gene: CYP11A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339683G>C , CM000677.2:g.74339683G>C GRCh38
NC_000015.9:g.74632024G>C , CM000677.1:g.74632024G>C GRCh37
NC_000015.8:g.72419077G>C NCBI36
NG_007973.1:g.33059C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.1061C>G MANE Select ENSP00000268053.6:p.Ala354Gly
ENST00000268053.10:c.1061C>G ENSP00000268053.6:p.Ala354Gly
ENST00000358632.8:c.587C>G ENSP00000351455.4:p.Ala196Gly
ENST00000435365.5:c.1061C>G ENSP00000391081.1:p.Ala354Gly
ENST00000566674.5:c.587C>G ENSP00000456941.1:p.Ala196Gly
NM_000781.2:c.1061C>G NP_000772.2:p.Ala354Gly
NM_001099773.1:c.587C>G NP_001093243.1:p.Ala196Gly
NM_000781.3:c.1061C>G MANE Select NP_000772.2:p.Ala354Gly
NM_001099773.2:c.587C>G NP_001093243.1:p.Ala196Gly