Canonical Allele Identifier: CA2112792
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs566475761
ExAC: 2:219678789 C / G
gnomAD v2: 2-219678789-C-G
gnomAD v3: 2-218814066-C-G
gnomAD v4: 2-218814066-C-G
MyVariant Identifiers: chr2:g.219678789C>G (hg19) chr2:g.218814066C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814066C>G , CM000664.2:g.218814066C>G GRCh38
NC_000002.11:g.219678789C>G , CM000664.1:g.219678789C>G GRCh37
NC_000002.10:g.219387033C>G NCBI36
NG_007959.1:g.37318C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.1063C>G MANE Select ENSP00000258415.4:p.Pro355Ala
ENST00000258415.8:c.1063C>G ENSP00000258415.4:p.Pro355Ala
ENST00000445971.1:c.*524C>G ENSP00000404945.1:n.*524C>G
ENST00000466602.1:n.1185C>G
ENST00000494263.5:n.1497C>G
NM_000784.3:c.1063C>G NP_000775.1:p.Pro355Ala
XM_017003488.2:c.643C>G XP_016858977.1:p.Pro215Ala
NM_000784.4:c.1063C>G MANE Select NP_000775.1:p.Pro355Ala
Search 100 bp 5'
Search 100 bp 3'