Canonical Allele Identifier: CA393147228
Gene: CYP11A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339725T>G , CM000677.2:g.74339725T>G GRCh38
NC_000015.9:g.74632066T>G , CM000677.1:g.74632066T>G GRCh37
NC_000015.8:g.72419119T>G NCBI36
NG_007973.1:g.33017A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.1019A>C MANE Select ENSP00000268053.6:p.Tyr340Ser
ENST00000268053.10:c.1019A>C ENSP00000268053.6:p.Tyr340Ser
ENST00000358632.8:c.545A>C ENSP00000351455.4:p.Tyr182Ser
ENST00000435365.5:c.1019A>C ENSP00000391081.1:p.Tyr340Ser
ENST00000566674.5:c.545A>C ENSP00000456941.1:p.Tyr182Ser
NM_000781.2:c.1019A>C NP_000772.2:p.Tyr340Ser
NM_001099773.1:c.545A>C NP_001093243.1:p.Tyr182Ser
NM_000781.3:c.1019A>C MANE Select NP_000772.2:p.Tyr340Ser
NM_001099773.2:c.545A>C NP_001093243.1:p.Tyr182Ser