Canonical Allele Identifier: CA350587079
Gene: CYP27A1 HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.780G>A MANE Select ENSP00000258415.4:p.Trp260Ter
ENST00000258415.8:c.780G>A ENSP00000258415.4:p.Trp260Ter
ENST00000411688.1:c.498G>A ENSP00000392671.1:p.Trp166Ter
ENST00000445971.1:c.*241G>A ENSP00000404945.1:n.*241G>A
ENST00000466602.1:n.728G>A
ENST00000494263.5:n.1214G>A
NM_000784.3:c.780G>A NP_000775.1:p.Trp260Ter
XM_017003488.2:c.360G>A XP_016858977.1:p.Trp120Ter
NM_000784.4:c.780G>A MANE Select NP_000775.1:p.Trp260Ter
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Search 100 bp 3'