Canonical Allele Identifier: CA6658162
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs762701380
ExAC: 12:58157527 G / T
gnomAD v2: 12-58157527-G-T
gnomAD v3: 12-57763744-G-T
gnomAD v4: 12-57763744-G-T
COSMIC: COSM942214
MyVariant Identifiers: chr12:g.58157527G>T (hg19) chr12:g.57763744G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763744G>T , CM000674.2:g.57763744G>T GRCh38
NC_000012.11:g.58157527G>T , CM000674.1:g.58157527G>T GRCh37
NC_000012.10:g.56443794G>T NCBI36
NG_007076.1:g.8450C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1361C>A ENSP00000518840.1:p.Ser454Tyr
ENST00000713545.1:c.*285C>A ENSP00000518841.1:n.*285C>A
ENST00000228606.9:c.1280C>A MANE Select ENSP00000228606.4:p.Ser427Tyr
ENST00000228606.8:c.1280C>A ENSP00000228606.4:p.Ser427Tyr
ENST00000547344.5:n.1419C>A
NM_000785.3:c.1280C>A NP_000776.1:p.Ser427Tyr
NM_000785.4:c.1280C>A MANE Select NP_000776.1:p.Ser427Tyr
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