Canonical Allele Identifier: CA385504031
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58158308A>C (hg19) chr12:g.57764525A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764525A>C , CM000674.2:g.57764525A>C GRCh38
NC_000012.11:g.58158308A>C , CM000674.1:g.58158308A>C GRCh37
NC_000012.10:g.56444575A>C NCBI36
NG_007076.1:g.7669T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1070T>G ENSP00000518840.1:p.Leu357Arg
ENST00000713545.1:c.1047T>G ENSP00000518841.1:p.Ser349=
ENST00000228606.9:c.989T>G MANE Select ENSP00000228606.4:p.Leu330Arg
ENST00000228606.8:c.989T>G ENSP00000228606.4:p.Leu330Arg
ENST00000546567.5:c.284T>G ENSP00000449472.1:p.Leu95Arg
ENST00000547344.5:n.1128T>G
NM_000785.3:c.989T>G NP_000776.1:p.Leu330Arg
NM_000785.4:c.989T>G MANE Select NP_000776.1:p.Leu330Arg
Search 100 bp 5'
Search 100 bp 3'