Canonical Allele Identifier: CA2580616695
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2035798
ClinVar RCV Id: RCV002877607
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814102_218814105dup , CM000664.2:g.218814102_218814105dup GRCh38
NC_000002.11:g.219678825_219678828dup , CM000664.1:g.219678825_219678828dup GRCh37
NC_000002.10:g.219387069_219387072dup NCBI36
NG_007959.1:g.37354_37357dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1099_1102dup MANE Select ENSP00000258415.4:p.Val368GlyfsTer25
ENST00000258415.8:c.1099_1102dup ENSP00000258415.4:p.Val368GlyfsTer25
ENST00000494263.5:n.1533_1536dup
NM_000784.3:c.1099_1102dup NP_000775.1:p.Val368GlyfsTer25
XM_017003488.2:c.679_682dup XP_016858977.1:p.Val228GlyfsTer25
NM_000784.4:c.1099_1102dup MANE Select NP_000775.1:p.Val368GlyfsTer25
Search 100 bp 5'
Search 100 bp 3'