Canonical Allele Identifier: CA431414249
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219677313C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812590C>T , CM000664.2:g.218812590C>T GRCh38
NC_000002.11:g.219677313C>T , CM000664.1:g.219677313C>T GRCh37
NC_000002.10:g.219385557C>T NCBI36
NG_007959.1:g.35842C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.685C>T MANE Select ENSP00000258415.4:p.Leu229=
ENST00000258415.8:c.685C>T ENSP00000258415.4:p.Leu229=
ENST00000411688.1:c.403C>T ENSP00000392671.1:p.Leu135=
ENST00000445971.1:c.*146C>T ENSP00000404945.1:n.*146C>T
ENST00000466602.1:n.633C>T
ENST00000494263.5:n.1119C>T
NM_000784.3:c.685C>T NP_000775.1:p.Leu229=
XM_017003488.2:c.265C>T XP_016858977.1:p.Leu89=
NM_000784.4:c.685C>T MANE Select NP_000775.1:p.Leu229=
Search 100 bp 5'
Search 100 bp 3'