Canonical Allele Identifier: CA393146965
Gene: CYP11A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339599T>G , CM000677.2:g.74339599T>G GRCh38
NC_000015.9:g.74631940T>G , CM000677.1:g.74631940T>G GRCh37
NC_000015.8:g.72418993T>G NCBI36
NG_007973.1:g.33143A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.1145A>C MANE Select ENSP00000268053.6:p.Lys382Thr
ENST00000268053.10:c.1145A>C ENSP00000268053.6:p.Lys382Thr
ENST00000358632.8:c.671A>C ENSP00000351455.4:p.Lys224Thr
ENST00000435365.5:c.1145A>C ENSP00000391081.1:p.Lys382Thr
ENST00000566674.5:c.671A>C ENSP00000456941.1:p.Lys224Thr
NM_000781.2:c.1145A>C NP_000772.2:p.Lys382Thr
NM_001099773.1:c.671A>C NP_001093243.1:p.Lys224Thr
NM_000781.3:c.1145A>C MANE Select NP_000772.2:p.Lys382Thr
NM_001099773.2:c.671A>C NP_001093243.1:p.Lys224Thr