Canonical Allele Identifier: CA350592586
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1376283
ClinVar RCV Id: RCV001885808
dbSNP Id: rs1201958431
gnomAD v2: 2-219678888-G-A
gnomAD v4: 2-218814165-G-A
MyVariant Identifiers: chr2:g.219678888G>A (hg19) chr2:g.218814165G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814165G>A , CM000664.2:g.218814165G>A GRCh38
NC_000002.11:g.219678888G>A , CM000664.1:g.219678888G>A GRCh37
NC_000002.10:g.219387132G>A NCBI36
NG_007959.1:g.37417G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1162G>A MANE Select ENSP00000258415.4:p.Ala388Thr
ENST00000258415.8:c.1162G>A ENSP00000258415.4:p.Ala388Thr
ENST00000494263.5:n.1596G>A
NM_000784.3:c.1162G>A NP_000775.1:p.Ala388Thr
XM_017003488.2:c.742G>A XP_016858977.1:p.Ala248Thr
NM_000784.4:c.1162G>A MANE Select NP_000775.1:p.Ala388Thr
Search 100 bp 5'
Search 100 bp 3'