Canonical Allele Identifier: CA480269235
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58157466G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763683G>A , CM000674.2:g.57763683G>A GRCh38
NC_000012.11:g.58157466G>A , CM000674.1:g.58157466G>A GRCh37
NC_000012.10:g.56443733G>A NCBI36
NG_007076.1:g.8511C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1422C>T ENSP00000518840.1:p.Pro474=
ENST00000713545.1:c.*346C>T ENSP00000518841.1:n.*346C>T
ENST00000228606.9:c.1341C>T MANE Select ENSP00000228606.4:p.Pro447=
ENST00000228606.8:c.1341C>T ENSP00000228606.4:p.Pro447=
ENST00000547344.5:n.1480C>T
NM_000785.3:c.1341C>T NP_000776.1:p.Pro447=
NM_000785.4:c.1341C>T MANE Select NP_000776.1:p.Pro447=
Search 100 bp 5'
Search 100 bp 3'