Canonical Allele Identifier: CA2112814

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 334374
• ClinVar RCV Id: RCV000273860 ; RCV003912409
• dbSNP Id: rs200457116
• ExAC: 2:219678919 G / T
• gnomAD v2: 2-219678919-G-T
• gnomAD v3: 2-218814196-G-T
• gnomAD v4: 2-218814196-G-T
• MyVariant Identifiers: chr2:g.219678919G>T (hg19) ; chr2:g.218814196G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814196G>T , CM000664.2:g.218814196G>T	GRCh38
NC_000002.11:g.219678919G>T , CM000664.1:g.219678919G>T	GRCh37
NC_000002.10:g.219387163G>T	NCBI36
NG_007959.1:g.37448G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1184+9G>T MANE Select	ENSP00000258415.4:n.1184+9G>T
ENST00000258415.8:c.1184+9G>T	ENSP00000258415.4:n.1184+9G>T
ENST00000494263.5:n.1627G>T
NM_000784.3:c.1184+9G>T	NP_000775.1:n.1184+9G>T
XM_017003488.2:c.764+9G>T	XP_016858977.1:n.764+9G>T
NM_000784.4:c.1184+9G>T MANE Select	NP_000775.1:n.1184+9G>T