Canonical Allele Identifier: CA385503313
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58158188A>C (hg19) chr12:g.57764405A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764405A>C , CM000674.2:g.57764405A>C GRCh38
NC_000012.11:g.58158188A>C , CM000674.1:g.58158188A>C GRCh37
NC_000012.10:g.56444455A>C NCBI36
NG_007076.1:g.7789T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1190T>G ENSP00000518840.1:p.Leu397Arg
ENST00000713545.1:c.*114T>G ENSP00000518841.1:n.*114T>G
ENST00000228606.9:c.1109T>G MANE Select ENSP00000228606.4:p.Leu370Arg
ENST00000228606.8:c.1109T>G ENSP00000228606.4:p.Leu370Arg
ENST00000546567.5:c.404T>G ENSP00000449472.1:p.Leu135Arg
ENST00000547344.5:n.1248T>G
NM_000785.3:c.1109T>G NP_000776.1:p.Leu370Arg
NM_000785.4:c.1109T>G MANE Select NP_000776.1:p.Leu370Arg
Search 100 bp 5'
Search 100 bp 3'