Canonical Allele Identifier: CA350595931
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs1485788470
gnomAD v2: 2-219679638-T-C
gnomAD v3: 2-218814915-T-C
gnomAD v4: 2-218814915-T-C
MyVariant Identifiers: chr2:g.219679638T>C (hg19) chr2:g.218814915T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814915T>C , CM000664.2:g.218814915T>C GRCh38
NC_000002.11:g.219679638T>C , CM000664.1:g.219679638T>C GRCh37
NC_000002.10:g.219387882T>C NCBI36
NG_007959.1:g.38167T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1481T>C MANE Select ENSP00000258415.4:p.Ile494Thr
ENST00000258415.8:c.1481T>C ENSP00000258415.4:p.Ile494Thr
ENST00000494263.5:n.2193T>C
NM_000784.3:c.1481T>C NP_000775.1:p.Ile494Thr
XM_017003488.2:c.1061T>C XP_016858977.1:p.Ile354Thr
NM_000784.4:c.1481T>C MANE Select NP_000775.1:p.Ile494Thr
Search 100 bp 5'
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