Canonical Allele Identifier: CA350587081
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219677408G>C (hg19) chr2:g.218812685G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812685G>C , CM000664.2:g.218812685G>C GRCh38
NC_000002.11:g.219677408G>C , CM000664.1:g.219677408G>C GRCh37
NC_000002.10:g.219385652G>C NCBI36
NG_007959.1:g.35937G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.780G>C MANE Select ENSP00000258415.4:p.Trp260Cys
ENST00000258415.8:c.780G>C ENSP00000258415.4:p.Trp260Cys
ENST00000411688.1:c.498G>C ENSP00000392671.1:p.Trp166Cys
ENST00000445971.1:c.*241G>C ENSP00000404945.1:n.*241G>C
ENST00000466602.1:n.728G>C
ENST00000494263.5:n.1214G>C
NM_000784.3:c.780G>C NP_000775.1:p.Trp260Cys
XM_017003488.2:c.360G>C XP_016858977.1:p.Trp120Cys
NM_000784.4:c.780G>C MANE Select NP_000775.1:p.Trp260Cys
Search 100 bp 5'
Search 100 bp 3'