Canonical Allele Identifier: CA350586888
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs1178135866
gnomAD v2: 2-219677382-C-T
gnomAD v3: 2-218812659-C-T
gnomAD v4: 2-218812659-C-T
MyVariant Identifiers: chr2:g.219677382C>T (hg19) chr2:g.218812659C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812659C>T , CM000664.2:g.218812659C>T GRCh38
NC_000002.11:g.219677382C>T , CM000664.1:g.219677382C>T GRCh37
NC_000002.10:g.219385626C>T NCBI36
NG_007959.1:g.35911C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.754C>T MANE Select ENSP00000258415.4:p.Leu252Phe
ENST00000258415.8:c.754C>T ENSP00000258415.4:p.Leu252Phe
ENST00000411688.1:c.472C>T ENSP00000392671.1:p.Leu158Phe
ENST00000445971.1:c.*215C>T ENSP00000404945.1:n.*215C>T
ENST00000466602.1:n.702C>T
ENST00000494263.5:n.1188C>T
NM_000784.3:c.754C>T NP_000775.1:p.Leu252Phe
XM_017003488.2:c.334C>T XP_016858977.1:p.Leu112Phe
NM_000784.4:c.754C>T MANE Select NP_000775.1:p.Leu252Phe
Search 100 bp 5'
Search 100 bp 3'