Canonical Allele Identifier: CA350587209
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219677419T>C (hg19) chr2:g.218812696T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812696T>C , CM000664.2:g.218812696T>C GRCh38
NC_000002.11:g.219677419T>C , CM000664.1:g.219677419T>C GRCh37
NC_000002.10:g.219385663T>C NCBI36
NG_007959.1:g.35948T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.791T>C MANE Select ENSP00000258415.4:p.Val264Ala
ENST00000258415.8:c.791T>C ENSP00000258415.4:p.Val264Ala
ENST00000411688.1:c.509T>C ENSP00000392671.1:p.Val170Ala
ENST00000445971.1:c.*252T>C ENSP00000404945.1:n.*252T>C
ENST00000466602.1:n.739T>C
ENST00000494263.5:n.1225T>C
NM_000784.3:c.791T>C NP_000775.1:p.Val264Ala
XM_017003488.2:c.371T>C XP_016858977.1:p.Val124Ala
NM_000784.4:c.791T>C MANE Select NP_000775.1:p.Val264Ala
Search 100 bp 5'
Search 100 bp 3'