Canonical Allele Identifier: CA385505510
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58158956G>C (hg19) chr12:g.57765173G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765173G>C , CM000674.2:g.57765173G>C GRCh38
NC_000012.11:g.58158956G>C , CM000674.1:g.58158956G>C GRCh37
NC_000012.10:g.56445223G>C NCBI36
NG_007076.1:g.7021C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000546609.2:n.540C>G
ENST00000713544.1:c.709C>G ENSP00000518840.1:p.Leu237Val
ENST00000713545.1:c.686C>G ENSP00000518841.1:p.Pro229Arg
ENST00000228606.9:c.628C>G MANE Select ENSP00000228606.4:p.Leu210Val
ENST00000228606.8:c.628C>G ENSP00000228606.4:p.Leu210Val
ENST00000546567.5:c.-78C>G ENSP00000449472.1:n.-78C>G
ENST00000546609.1:c.540C>G
ENST00000547344.5:n.767C>G
ENST00000547451.1:n.428C>G
NM_000785.3:c.628C>G NP_000776.1:p.Leu210Val
NM_000785.4:c.628C>G MANE Select NP_000776.1:p.Leu210Val
Search 100 bp 5'
Search 100 bp 3'