Canonical Allele Identifier: CA350592008
Gene: CYP27A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814109T>C , CM000664.2:g.218814109T>C GRCh38
NC_000002.11:g.219678832T>C , CM000664.1:g.219678832T>C GRCh37
NC_000002.10:g.219387076T>C NCBI36
NG_007959.1:g.37361T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1106T>C MANE Select ENSP00000258415.4:p.Val369Ala
ENST00000258415.8:c.1106T>C ENSP00000258415.4:p.Val369Ala
ENST00000494263.5:n.1540T>C
NM_000784.3:c.1106T>C NP_000775.1:p.Val369Ala
XM_017003488.2:c.686T>C XP_016858977.1:p.Val229Ala
NM_000784.4:c.1106T>C MANE Select NP_000775.1:p.Val369Ala