Canonical Allele Identifier: CA350595222
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219679434T>A (hg19) chr2:g.218814711T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814711T>A , CM000664.2:g.218814711T>A GRCh38
NC_000002.11:g.219679434T>A , CM000664.1:g.219679434T>A GRCh37
NC_000002.10:g.219387678T>A NCBI36
NG_007959.1:g.37963T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1430T>A MANE Select ENSP00000258415.4:p.Leu477Gln
ENST00000258415.8:c.1430T>A ENSP00000258415.4:p.Leu477Gln
ENST00000494263.5:n.2142T>A
NM_000784.3:c.1430T>A NP_000775.1:p.Leu477Gln
XM_017003488.2:c.1010T>A XP_016858977.1:p.Leu337Gln
NM_000784.4:c.1430T>A MANE Select NP_000775.1:p.Leu477Gln
Search 100 bp 5'
Search 100 bp 3'