Canonical Allele Identifier: CA385504071
Gene: CYP27B1 HGNC NCBI

Linked Data

gnomAD v4: 12-57764534-G-C
MyVariant Identifiers: chr12:g.58158317G>C (hg19) chr12:g.57764534G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764534G>C , CM000674.2:g.57764534G>C GRCh38
NC_000012.11:g.58158317G>C , CM000674.1:g.58158317G>C GRCh37
NC_000012.10:g.56444584G>C NCBI36
NG_007076.1:g.7660C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1061C>G ENSP00000518840.1:p.Ser354Cys
ENST00000713545.1:c.1038C>G ENSP00000518841.1:p.Leu346=
ENST00000228606.9:c.980C>G MANE Select ENSP00000228606.4:p.Ser327Cys
ENST00000228606.8:c.980C>G ENSP00000228606.4:p.Ser327Cys
ENST00000546567.5:c.275C>G ENSP00000449472.1:p.Ser92Cys
ENST00000547344.5:n.1119C>G
NM_000785.3:c.980C>G NP_000776.1:p.Ser327Cys
NM_000785.4:c.980C>G MANE Select NP_000776.1:p.Ser327Cys
Search 100 bp 5'
Search 100 bp 3'