Canonical Allele Identifier: CA2112811
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs41272685
ExAC: 2:219678856 A / C
gnomAD v2: 2-219678856-A-C
gnomAD v4: 2-218814133-A-C
MyVariant Identifiers: chr2:g.219678856A>C (hg19) chr2:g.218814133A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814133A>C , CM000664.2:g.218814133A>C GRCh38
NC_000002.11:g.219678856A>C , CM000664.1:g.219678856A>C GRCh37
NC_000002.10:g.219387100A>C NCBI36
NG_007959.1:g.37385A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1130A>C MANE Select ENSP00000258415.4:p.His377Pro
ENST00000258415.8:c.1130A>C ENSP00000258415.4:p.His377Pro
ENST00000494263.5:n.1564A>C
NM_000784.3:c.1130A>C NP_000775.1:p.His377Pro
XM_017003488.2:c.710A>C XP_016858977.1:p.His237Pro
NM_000784.4:c.1130A>C MANE Select NP_000775.1:p.His377Pro
Search 100 bp 5'
Search 100 bp 3'