Canonical Allele Identifier: CA431414703
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2090077
ClinVar RCV Id: RCV003003314
gnomAD v4: 2-218814745-A-G
MyVariant Identifiers: chr2:g.219679468A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814745A>G , CM000664.2:g.218814745A>G GRCh38
NC_000002.11:g.219679468A>G , CM000664.1:g.219679468A>G GRCh37
NC_000002.10:g.219387712A>G NCBI36
NG_007959.1:g.37997A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1464A>G MANE Select ENSP00000258415.4:p.Leu488=
ENST00000258415.8:c.1464A>G ENSP00000258415.4:p.Leu488=
ENST00000494263.5:n.2176A>G
NM_000784.3:c.1464A>G NP_000775.1:p.Leu488=
XM_017003488.2:c.1044A>G XP_016858977.1:p.Leu348=
NM_000784.4:c.1464A>G MANE Select NP_000775.1:p.Leu488=
Search 100 bp 5'
Search 100 bp 3'