Canonical Allele Identifier: CA350595909
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs1450063213
gnomAD v2: 2-219679637-A-T
MyVariant Identifiers: chr2:g.219679637A>T (hg19) chr2:g.218814914A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814914A>T , CM000664.2:g.218814914A>T GRCh38
NC_000002.11:g.219679637A>T , CM000664.1:g.219679637A>T GRCh37
NC_000002.10:g.219387881A>T NCBI36
NG_007959.1:g.38166A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1480A>T MANE Select ENSP00000258415.4:p.Ile494Phe
ENST00000258415.8:c.1480A>T ENSP00000258415.4:p.Ile494Phe
ENST00000494263.5:n.2192A>T
NM_000784.3:c.1480A>T NP_000775.1:p.Ile494Phe
XM_017003488.2:c.1060A>T XP_016858977.1:p.Ile354Phe
NM_000784.4:c.1480A>T MANE Select NP_000775.1:p.Ile494Phe
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