Canonical Allele Identifier: CA350592200
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219678854G>T (hg19) chr2:g.218814131G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814131G>T , CM000664.2:g.218814131G>T GRCh38
NC_000002.11:g.219678854G>T , CM000664.1:g.219678854G>T GRCh37
NC_000002.10:g.219387098G>T NCBI36
NG_007959.1:g.37383G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1128G>T MANE Select ENSP00000258415.4:p.Gln376His
ENST00000258415.8:c.1128G>T ENSP00000258415.4:p.Gln376His
ENST00000494263.5:n.1562G>T
NM_000784.3:c.1128G>T NP_000775.1:p.Gln376His
XM_017003488.2:c.708G>T XP_016858977.1:p.Gln236His
NM_000784.4:c.1128G>T MANE Select NP_000775.1:p.Gln376His
Search 100 bp 5'
Search 100 bp 3'