Canonical Allele Identifier: CA431234234
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219678890T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814167T>A , CM000664.2:g.218814167T>A GRCh38
NC_000002.11:g.219678890T>A , CM000664.1:g.219678890T>A GRCh37
NC_000002.10:g.219387134T>A NCBI36
NG_007959.1:g.37419T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1164T>A MANE Select ENSP00000258415.4:p.Ala388=
ENST00000258415.8:c.1164T>A ENSP00000258415.4:p.Ala388=
ENST00000494263.5:n.1598T>A
NM_000784.3:c.1164T>A NP_000775.1:p.Ala388=
XM_017003488.2:c.744T>A XP_016858977.1:p.Ala248=
NM_000784.4:c.1164T>A MANE Select NP_000775.1:p.Ala388=
Search 100 bp 5'
Search 100 bp 3'