Canonical Allele Identifier: CA7656395
Gene: CYP11A1 HGNC NCBI

Linked Data

dbSNP Id: rs139449608
ExAC: 15:74632093 G / A
gnomAD v2: 15-74632093-G-A
gnomAD v3: 15-74339752-G-A
gnomAD v4: 15-74339752-G-A
MyVariant Identifiers: chr15:g.74632093G>A (hg19) chr15:g.74339752G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339752G>A , CM000677.2:g.74339752G>A GRCh38
NC_000015.9:g.74632093G>A , CM000677.1:g.74632093G>A GRCh37
NC_000015.8:g.72419146G>A NCBI36
NG_007973.1:g.32990C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.992C>T MANE Select ENSP00000268053.6:p.Thr331Met
ENST00000268053.10:c.992C>T ENSP00000268053.6:p.Thr331Met
ENST00000358632.8:c.518C>T ENSP00000351455.4:p.Thr173Met
ENST00000435365.5:c.992C>T ENSP00000391081.1:p.Thr331Met
ENST00000566674.5:c.518C>T ENSP00000456941.1:p.Thr173Met
NM_000781.2:c.992C>T NP_000772.2:p.Thr331Met
NM_001099773.1:c.518C>T NP_001093243.1:p.Thr173Met
NM_000781.3:c.992C>T MANE Select NP_000772.2:p.Thr331Met
NM_001099773.2:c.518C>T NP_001093243.1:p.Thr173Met
Search 100 bp 5'
Search 100 bp 3'