Canonical Allele Identifier: CA350592002
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219678831G>A (hg19) chr2:g.218814108G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814108G>A , CM000664.2:g.218814108G>A GRCh38
NC_000002.11:g.219678831G>A , CM000664.1:g.219678831G>A GRCh37
NC_000002.10:g.219387075G>A NCBI36
NG_007959.1:g.37360G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1105G>A MANE Select ENSP00000258415.4:p.Val369Met
ENST00000258415.8:c.1105G>A ENSP00000258415.4:p.Val369Met
ENST00000494263.5:n.1539G>A
NM_000784.3:c.1105G>A NP_000775.1:p.Val369Met
XM_017003488.2:c.685G>A XP_016858977.1:p.Val229Met
NM_000784.4:c.1105G>A MANE Select NP_000775.1:p.Val369Met
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