Canonical Allele Identifier: CA350591578

Gene: CYP27A1

Linked Data

• MyVariant Identifiers: chr2:g.219678786G>T (hg19) ; chr2:g.218814063G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814063G>T , CM000664.2:g.218814063G>T	GRCh38
NC_000002.11:g.219678786G>T , CM000664.1:g.219678786G>T	GRCh37
NC_000002.10:g.219387030G>T	NCBI36
NG_007959.1:g.37315G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258415.9:c.1060G>T MANE Select	ENSP00000258415.4:p.Asp354Tyr
ENST00000258415.8:c.1060G>T	ENSP00000258415.4:p.Asp354Tyr
ENST00000445971.1:c.*521G>T	ENSP00000404945.1:n.*521G>T
ENST00000466602.1:n.1182G>T
ENST00000494263.5:n.1494G>T
NM_000784.3:c.1060G>T	NP_000775.1:p.Asp354Tyr
XM_017003488.2:c.640G>T	XP_016858977.1:p.Asp214Tyr
NM_000784.4:c.1060G>T MANE Select	NP_000775.1:p.Asp354Tyr