Canonical Allele Identifier: CA431234069
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 557345
ClinVar RCV Id: RCV000673477
dbSNP Id: rs200553205
gnomAD v4: 2-218813096-G-T
COSMIC: COSM5486217
MyVariant Identifiers: chr2:g.219677819G>T (hg19) chr2:g.218813096G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218813096G>T , CM000664.2:g.218813096G>T GRCh38
NC_000002.11:g.219677819G>T , CM000664.1:g.219677819G>T GRCh37
NC_000002.10:g.219386063G>T NCBI36
NG_007959.1:g.36348G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.1017G>T MANE Select ENSP00000258415.4:p.Thr339=
ENST00000258415.8:c.1017G>T ENSP00000258415.4:p.Thr339=
ENST00000445971.1:c.*478G>T ENSP00000404945.1:n.*478G>T
ENST00000466602.1:n.1139G>T
ENST00000494263.5:n.1451G>T
NM_000784.3:c.1017G>T NP_000775.1:p.Thr339=
XM_017003488.2:c.597G>T XP_016858977.1:p.Thr199=
NM_000784.4:c.1017G>T MANE Select NP_000775.1:p.Thr339=
Search 100 bp 5'
Search 100 bp 3'