Canonical Allele Identifier: CA2112641

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 287928
• ClinVar RCV Id: RCV000373213 ; RCV000397675 ; RCV002348013
• dbSNP Id: rs145080072
• ExAC: 2:219677034 A / G
• gnomAD v2: 2-219677034-A-G
• gnomAD v3: 2-218812311-A-G
• gnomAD v4: 2-218812311-A-G
• MyVariant Identifiers: chr2:g.219677034A>G (hg19) ; chr2:g.218812311A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812311A>G , CM000664.2:g.218812311A>G	GRCh38
NC_000002.11:g.219677034A>G , CM000664.1:g.219677034A>G	GRCh37
NC_000002.10:g.219385278A>G	NCBI36
NG_007959.1:g.35563A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.536A>G MANE Select	ENSP00000258415.4:p.Asn179Ser
ENST00000258415.8:c.536A>G	ENSP00000258415.4:p.Asn179Ser
ENST00000411688.1:c.254A>G	ENSP00000392671.1:p.Asn85Ser
ENST00000445971.1:c.345A>G	ENSP00000404945.1:p.Gln115=
ENST00000466602.1:n.354A>G
ENST00000494263.5:n.970A>G
NM_000784.3:c.536A>G	NP_000775.1:p.Asn179Ser
XM_017003488.2:c.116A>G	XP_016858977.1:p.Asn39Ser
NM_000784.4:c.536A>G MANE Select	NP_000775.1:p.Asn179Ser