Canonical Allele Identifier: CA393146991
Gene: CYP11A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339610T>A , CM000677.2:g.74339610T>A GRCh38
NC_000015.9:g.74631951T>A , CM000677.1:g.74631951T>A GRCh37
NC_000015.8:g.72419004T>A NCBI36
NG_007973.1:g.33132A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.1134A>T MANE Select ENSP00000268053.6:p.Lys378Asn
ENST00000268053.10:c.1134A>T ENSP00000268053.6:p.Lys378Asn
ENST00000358632.8:c.660A>T ENSP00000351455.4:p.Lys220Asn
ENST00000435365.5:c.1134A>T ENSP00000391081.1:p.Lys378Asn
ENST00000566674.5:c.660A>T ENSP00000456941.1:p.Lys220Asn
NM_000781.2:c.1134A>T NP_000772.2:p.Lys378Asn
NM_001099773.1:c.660A>T NP_001093243.1:p.Lys220Asn
NM_000781.3:c.1134A>T MANE Select NP_000772.2:p.Lys378Asn
NM_001099773.2:c.660A>T NP_001093243.1:p.Lys220Asn