Canonical Allele Identifier: CA2739278342
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2788852
ClinVar RCV Id: RCV003611843

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814207T>C , CM000664.2:g.218814207T>C GRCh38
NC_000002.11:g.219678930T>C , CM000664.1:g.219678930T>C GRCh37
NC_000002.10:g.219387174T>C NCBI36
NG_007959.1:g.37459T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1184+20T>C MANE Select ENSP00000258415.4:n.1184+20T>C
ENST00000258415.8:c.1184+20T>C ENSP00000258415.4:n.1184+20T>C
ENST00000494263.5:n.1638T>C
NM_000784.3:c.1184+20T>C NP_000775.1:n.1184+20T>C
XM_017003488.2:c.764+20T>C XP_016858977.1:n.764+20T>C
NM_000784.4:c.1184+20T>C MANE Select NP_000775.1:n.1184+20T>C