Canonical Allele Identifier: CA1328929611
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1588915
ClinVar RCV Id: RCV002098574
dbSNP Id: rs1445661658
gnomAD v4: 2-218814203-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814203G>T , CM000664.2:g.218814203G>T GRCh38
NC_000002.11:g.219678926G>T , CM000664.1:g.219678926G>T GRCh37
NC_000002.10:g.219387170G>T NCBI36
NG_007959.1:g.37455G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.1184+16G>T MANE Select ENSP00000258415.4:n.1184+16G>T
ENST00000258415.8:c.1184+16G>T ENSP00000258415.4:n.1184+16G>T
ENST00000494263.5:n.1634G>T
NM_000784.3:c.1184+16G>T NP_000775.1:n.1184+16G>T
XM_017003488.2:c.764+16G>T XP_016858977.1:n.764+16G>T
NM_000784.4:c.1184+16G>T MANE Select NP_000775.1:n.1184+16G>T
Search 100 bp 5'
Search 100 bp 3'