Canonical Allele Identifier: CA431414211
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1142084
ClinVar RCV Id: RCV001479751
dbSNP Id: rs1414259537
gnomAD v4: 2-218812562-C-T
MyVariant Identifiers: chr2:g.219677285C>T (hg19) chr2:g.218812562C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812562C>T , CM000664.2:g.218812562C>T GRCh38
NC_000002.11:g.219677285C>T , CM000664.1:g.219677285C>T GRCh37
NC_000002.10:g.219385529C>T NCBI36
NG_007959.1:g.35814C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.657C>T MANE Select ENSP00000258415.4:p.Tyr219=
ENST00000258415.8:c.657C>T ENSP00000258415.4:p.Tyr219=
ENST00000411688.1:c.375C>T ENSP00000392671.1:p.Tyr125=
ENST00000445971.1:c.*118C>T ENSP00000404945.1:n.*118C>T
ENST00000466602.1:n.605C>T
ENST00000494263.5:n.1091C>T
NM_000784.3:c.657C>T NP_000775.1:p.Tyr219=
XM_017003488.2:c.237C>T XP_016858977.1:p.Tyr79=
NM_000784.4:c.657C>T MANE Select NP_000775.1:p.Tyr219=
Search 100 bp 5'
Search 100 bp 3'