Canonical Allele Identifier: CA345230
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65895
ClinVar RCV Id: RCV000056140
dbSNP Id: rs72551316
ExAC: 2:219677373 C / T
gnomAD v2: 2-219677373-C-T
gnomAD v3: 2-218812650-C-T
gnomAD v4: 2-218812650-C-T
MyVariant Identifiers: chr2:g.219677373C>T (hg19) chr2:g.218812650C>T (hg38)
PubMed: PMID:10775536 PMID:20301583
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812650C>T , CM000664.2:g.218812650C>T GRCh38
NC_000002.11:g.219677373C>T , CM000664.1:g.219677373C>T GRCh37
NC_000002.10:g.219385617C>T NCBI36
NG_007959.1:g.35902C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.745C>T MANE Select ENSP00000258415.4:p.Gln249Ter
ENST00000258415.8:c.745C>T ENSP00000258415.4:p.Gln249Ter
ENST00000411688.1:c.463C>T ENSP00000392671.1:p.Gln155Ter
ENST00000445971.1:c.*206C>T ENSP00000404945.1:n.*206C>T
ENST00000466602.1:n.693C>T
ENST00000494263.5:n.1179C>T
NM_000784.3:c.745C>T NP_000775.1:p.Gln249Ter
XM_017003488.2:c.325C>T XP_016858977.1:p.Gln109Ter
NM_000784.4:c.745C>T MANE Select NP_000775.1:p.Gln249Ter
Search 100 bp 5'
Search 100 bp 3'