Canonical Allele Identifier: CA385504061
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58158314C>A (hg19) chr12:g.57764531C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764531C>A , CM000674.2:g.57764531C>A GRCh38
NC_000012.11:g.58158314C>A , CM000674.1:g.58158314C>A GRCh37
NC_000012.10:g.56444581C>A NCBI36
NG_007076.1:g.7663G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1064G>T ENSP00000518840.1:p.Trp355Leu
ENST00000713545.1:c.1041G>T ENSP00000518841.1:p.Leu347Phe
ENST00000228606.9:c.983G>T MANE Select ENSP00000228606.4:p.Trp328Leu
ENST00000228606.8:c.983G>T ENSP00000228606.4:p.Trp328Leu
ENST00000546567.5:c.278G>T ENSP00000449472.1:p.Trp93Leu
ENST00000547344.5:n.1122G>T
NM_000785.3:c.983G>T NP_000776.1:p.Trp328Leu
NM_000785.4:c.983G>T MANE Select NP_000776.1:p.Trp328Leu
Search 100 bp 5'
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