Canonical Allele Identifier: CA2701324038
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs200870241
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812508T>G , CM000664.2:g.218812508T>G GRCh38
NC_000002.11:g.219677231T>G , CM000664.1:g.219677231T>G GRCh37
NC_000002.10:g.219385475T>G NCBI36
NG_007959.1:g.35760T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.647-44T>G MANE Select ENSP00000258415.4:n.647-44T>G
ENST00000258415.8:c.647-44T>G ENSP00000258415.4:n.647-44T>G
ENST00000411688.1:c.365-44T>G ENSP00000392671.1:n.365-44T>G
ENST00000445971.1:c.*108-44T>G ENSP00000404945.1:n.*108-44T>G
ENST00000466602.1:n.551T>G
ENST00000494263.5:n.1081-44T>G
NM_000784.3:c.647-44T>G NP_000775.1:n.647-44T>G
XM_017003488.2:c.227-44T>G XP_016858977.1:n.227-44T>G
NM_000784.4:c.647-44T>G MANE Select NP_000775.1:n.647-44T>G
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