Canonical Allele Identifier: CA350591556
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219678784A>C (hg19) chr2:g.218814061A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814061A>C , CM000664.2:g.218814061A>C GRCh38
NC_000002.11:g.219678784A>C , CM000664.1:g.219678784A>C GRCh37
NC_000002.10:g.219387028A>C NCBI36
NG_007959.1:g.37313A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1058A>C MANE Select ENSP00000258415.4:p.Lys353Thr
ENST00000258415.8:c.1058A>C ENSP00000258415.4:p.Lys353Thr
ENST00000445971.1:c.*519A>C ENSP00000404945.1:n.*519A>C
ENST00000466602.1:n.1180A>C
ENST00000494263.5:n.1492A>C
NM_000784.3:c.1058A>C NP_000775.1:p.Lys353Thr
XM_017003488.2:c.638A>C XP_016858977.1:p.Lys213Thr
NM_000784.4:c.1058A>C MANE Select NP_000775.1:p.Lys353Thr
Search 100 bp 5'
Search 100 bp 3'