Canonical Allele Identifier: CA6658251
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs762118198
ExAC: 12:58158323 G / C
gnomAD v2: 12-58158323-G-C
gnomAD v4: 12-57764540-G-C
COSMIC: COSM6137665
MyVariant Identifiers: chr12:g.58158323G>C (hg19) chr12:g.57764540G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764540G>C , CM000674.2:g.57764540G>C GRCh38
NC_000012.11:g.58158323G>C , CM000674.1:g.58158323G>C GRCh37
NC_000012.10:g.56444590G>C NCBI36
NG_007076.1:g.7654C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1055C>G ENSP00000518840.1:p.Thr352Arg
ENST00000713545.1:c.1032C>G ENSP00000518841.1:p.His344Gln
ENST00000228606.9:c.974C>G MANE Select ENSP00000228606.4:p.Thr325Arg
ENST00000228606.8:c.974C>G ENSP00000228606.4:p.Thr325Arg
ENST00000546567.5:c.269C>G ENSP00000449472.1:p.Thr90Arg
ENST00000547344.5:n.1113C>G
NM_000785.3:c.974C>G NP_000776.1:p.Thr325Arg
NM_000785.4:c.974C>G MANE Select NP_000776.1:p.Thr325Arg
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Search 100 bp 3'