Canonical Allele Identifier: CA539840578
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs1439680333
gnomAD v2: 2-219678960-G-A
gnomAD v4: 2-218814237-G-A
MyVariant Identifiers: chr2:g.219678960G>A (hg19) chr2:g.218814237G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814237G>A , CM000664.2:g.218814237G>A GRCh38
NC_000002.11:g.219678960G>A , CM000664.1:g.219678960G>A GRCh37
NC_000002.10:g.219387204G>A NCBI36
NG_007959.1:g.37489G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1184+50G>A MANE Select ENSP00000258415.4:n.1184+50G>A
ENST00000258415.8:c.1184+50G>A ENSP00000258415.4:n.1184+50G>A
ENST00000494263.5:n.1668G>A
NM_000784.3:c.1184+50G>A NP_000775.1:n.1184+50G>A
XM_017003488.2:c.764+50G>A XP_016858977.1:n.764+50G>A
NM_000784.4:c.1184+50G>A MANE Select NP_000775.1:n.1184+50G>A
Search 100 bp 5'
Search 100 bp 3'