Canonical Allele Identifier: CA2112539
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 501951
ClinVar RCV Id: RCV000598426
dbSNP Id: rs185591162

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218782430A>C , CM000664.2:g.218782430A>C GRCh38
NC_000002.11:g.219647153A>C , CM000664.1:g.219647153A>C GRCh37
NC_000002.10:g.219355397A>C NCBI36
NG_007959.1:g.5682A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.248A>C MANE Select ENSP00000258415.4:p.Gln83Pro
ENST00000258415.8:c.248A>C ENSP00000258415.4:p.Gln83Pro
ENST00000445971.1:c.248A>C ENSP00000404945.1:p.Gln83Pro
ENST00000466602.1:n.257A>C
ENST00000494263.5:n.682A>C
NM_000784.3:c.248A>C NP_000775.1:p.Gln83Pro
XM_017003488.2:c.19A>C XP_016858977.1:p.Ser7Arg
NM_000784.4:c.248A>C MANE Select NP_000775.1:p.Gln83Pro