Canonical Allele Identifier: CA65834777
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs34494019
MyVariant Identifiers: chr2:g.219679039_219679040insG (hg19) chr2:g.218814316_218814317insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814318dup , CM000664.2:g.218814318dup GRCh38
NC_000002.11:g.219679041dup , CM000664.1:g.219679041dup GRCh37
NC_000002.10:g.219387285dup NCBI36
NG_007959.1:g.37570dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1185-62dup MANE Select ENSP00000258415.4:n.1185-62dup
ENST00000258415.8:c.1185-62dup ENSP00000258415.4:n.1185-62dup
ENST00000494263.5:n.1749dup
NM_000784.3:c.1185-62dup NP_000775.1:n.1185-62dup
XM_017003488.2:c.765-62dup XP_016858977.1:n.765-62dup
NM_000784.4:c.1185-62dup MANE Select NP_000775.1:n.1185-62dup
Search 100 bp 5'
Search 100 bp 3'