Canonical Allele Identifier: CA350587529
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs1559392699
gnomAD v2: 2-219677446-A-G
gnomAD v4: 2-218812723-A-G
MyVariant Identifiers: chr2:g.219677446A>G (hg19) chr2:g.219677446_219677449delinsGTGG (hg19) chr2:g.218812723A>G (hg38) chr2:g.218812723_218812726delinsGTGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812723A>G , CM000664.2:g.218812723A>G GRCh38
NC_000002.11:g.219677446A>G , CM000664.1:g.219677446A>G GRCh37
NC_000002.10:g.219385690A>G NCBI36
NG_007959.1:g.35975A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.818A>G MANE Select ENSP00000258415.4:p.Asp273Gly
ENST00000258415.8:c.818A>G ENSP00000258415.4:p.Asp273Gly
ENST00000411688.1:c.536A>G ENSP00000392671.1:p.Asp179Gly
ENST00000445971.1:c.*279A>G ENSP00000404945.1:n.*279A>G
ENST00000466602.1:n.766A>G
ENST00000494263.5:n.1252A>G
NM_000784.3:c.818A>G NP_000775.1:p.Asp273Gly
XM_017003488.2:c.398A>G XP_016858977.1:p.Asp133Gly
NM_000784.4:c.818A>G MANE Select NP_000775.1:p.Asp273Gly
Search 100 bp 5'
Search 100 bp 3'