Canonical Allele Identifier: CA431234165
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs1045010358

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814098G>C , CM000664.2:g.218814098G>C GRCh38
NC_000002.11:g.219678821G>C , CM000664.1:g.219678821G>C GRCh37
NC_000002.10:g.219387065G>C NCBI36
NG_007959.1:g.37350G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1095G>C MANE Select ENSP00000258415.4:p.Val365=
ENST00000258415.8:c.1095G>C ENSP00000258415.4:p.Val365=
ENST00000494263.5:n.1529G>C
NM_000784.3:c.1095G>C NP_000775.1:p.Val365=
XM_017003488.2:c.675G>C XP_016858977.1:p.Val225=
NM_000784.4:c.1095G>C MANE Select NP_000775.1:p.Val365=