Canonical Allele Identifier: CA65813781
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs534844099
gnomAD v4: 2-218782402-G-A
MyVariant Identifiers: chr2:g.219647125G>A (hg19) chr2:g.218782402G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218782402G>A , CM000664.2:g.218782402G>A GRCh38
NC_000002.11:g.219647125G>A , CM000664.1:g.219647125G>A GRCh37
NC_000002.10:g.219355369G>A NCBI36
NG_007959.1:g.5654G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.220G>A MANE Select ENSP00000258415.4:p.Val74Ile
ENST00000258415.8:c.220G>A ENSP00000258415.4:p.Val74Ile
ENST00000445971.1:c.220G>A ENSP00000404945.1:p.Val74Ile
ENST00000466602.1:n.229G>A
ENST00000494263.5:n.654G>A
NM_000784.3:c.220G>A NP_000775.1:p.Val74Ile
XM_017003488.2:c.-10G>A XP_016858977.1:n.-10G>A
NM_000784.4:c.220G>A MANE Select NP_000775.1:p.Val74Ile
Search 100 bp 5'
Search 100 bp 3'