Canonical Allele Identifier: CA764917667
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs1333268372
gnomAD v3: 2-218812826-G-A
gnomAD v4: 2-218812826-G-A
MyVariant Identifiers: chr2:g.219677549G>A (hg19) chr2:g.218812826G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812826G>A , CM000664.2:g.218812826G>A GRCh38
NC_000002.11:g.219677549G>A , CM000664.1:g.219677549G>A GRCh37
NC_000002.10:g.219385793G>A NCBI36
NG_007959.1:g.36078G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.844+77G>A MANE Select ENSP00000258415.4:n.844+77G>A
ENST00000258415.8:c.844+77G>A ENSP00000258415.4:n.844+77G>A
ENST00000411688.1:c.562+77G>A ENSP00000392671.1:n.562+77G>A
ENST00000445971.1:c.*305+77G>A ENSP00000404945.1:n.*305+77G>A
ENST00000466602.1:n.869G>A
ENST00000494263.5:n.1278+77G>A
NM_000784.3:c.844+77G>A NP_000775.1:n.844+77G>A
XM_017003488.2:c.424+77G>A XP_016858977.1:n.424+77G>A
NM_000784.4:c.844+77G>A MANE Select NP_000775.1:n.844+77G>A
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