Canonical Allele Identifier: CA2187637895
Gene: CYP11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339622G= , CM000677.2:g.74339622G= GRCh38
NC_000015.9:g.74631963G= , CM000677.1:g.74631963G= GRCh37
NC_000015.8:g.72419016G= NCBI36
NG_007973.1:g.33120C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.1122C= MANE Select ENSP00000268053.6:p.Val374=
ENST00000268053.10:c.1122C= ENSP00000268053.6:p.Val374=
ENST00000358632.8:c.648C= ENSP00000351455.4:p.Val216=
ENST00000435365.5:c.1122C= ENSP00000391081.1:p.Val374=
ENST00000566674.5:c.648C= ENSP00000456941.1:p.Val216=
NM_000781.2:c.1122C= NP_000772.2:p.Val374=
NM_001099773.1:c.648C= NP_001093243.1:p.Val216=
NM_000781.3:c.1122C= MANE Select NP_000772.2:p.Val374=
NM_001099773.2:c.648C= NP_001093243.1:p.Val216=