Canonical Allele Identifier: CA393146982
Gene: CYP11A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.74631946C>T (hg19) chr15:g.74339605C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339605C>T , CM000677.2:g.74339605C>T GRCh38
NC_000015.9:g.74631946C>T , CM000677.1:g.74631946C>T GRCh37
NC_000015.8:g.72418999C>T NCBI36
NG_007973.1:g.33137G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.1139G>A MANE Select ENSP00000268053.6:p.Ser380Asn
ENST00000268053.10:c.1139G>A ENSP00000268053.6:p.Ser380Asn
ENST00000358632.8:c.665G>A ENSP00000351455.4:p.Ser222Asn
ENST00000435365.5:c.1139G>A ENSP00000391081.1:p.Ser380Asn
ENST00000566674.5:c.665G>A ENSP00000456941.1:p.Ser222Asn
NM_000781.2:c.1139G>A NP_000772.2:p.Ser380Asn
NM_001099773.1:c.665G>A NP_001093243.1:p.Ser222Asn
NM_000781.3:c.1139G>A MANE Select NP_000772.2:p.Ser380Asn
NM_001099773.2:c.665G>A NP_001093243.1:p.Ser222Asn
Search 100 bp 5'
Search 100 bp 3'