Canonical Allele Identifier: CA385503768
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58158257A>C (hg19) chr12:g.57764474A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764474A>C , CM000674.2:g.57764474A>C GRCh38
NC_000012.11:g.58158257A>C , CM000674.1:g.58158257A>C GRCh37
NC_000012.10:g.56444524A>C NCBI36
NG_007076.1:g.7720T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1121T>G ENSP00000518840.1:p.Ile374Ser
ENST00000713545.1:c.*45T>G ENSP00000518841.1:n.*45T>G
ENST00000228606.9:c.1040T>G MANE Select ENSP00000228606.4:p.Ile347Ser
ENST00000228606.8:c.1040T>G ENSP00000228606.4:p.Ile347Ser
ENST00000546567.5:c.335T>G ENSP00000449472.1:p.Ile112Ser
ENST00000547344.5:n.1179T>G
NM_000785.3:c.1040T>G NP_000776.1:p.Ile347Ser
NM_000785.4:c.1040T>G MANE Select NP_000776.1:p.Ile347Ser
Search 100 bp 5'
Search 100 bp 3'