Canonical Allele Identifier: CA1328916383
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs1943406252
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218782741C>A , CM000664.2:g.218782741C>A GRCh38
NC_000002.11:g.219647464C>A , CM000664.1:g.219647464C>A GRCh37
NC_000002.10:g.219355708C>A NCBI36
NG_007959.1:g.5993C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.255+304C>A MANE Select ENSP00000258415.4:n.255+304C>A
ENST00000258415.8:c.255+304C>A ENSP00000258415.4:n.255+304C>A
ENST00000445971.1:c.255+304C>A ENSP00000404945.1:n.255+304C>A
ENST00000466602.1:n.264+304C>A
ENST00000494263.5:n.689+304C>A
NM_000784.3:c.255+304C>A NP_000775.1:n.255+304C>A
XM_017003488.2:c.26+304C>A XP_016858977.1:n.26+304C>A
NM_000784.4:c.255+304C>A MANE Select NP_000775.1:n.255+304C>A
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