Canonical Allele Identifier: CA385501021
Gene: CYP27B1 HGNC NCBI

Linked Data

gnomAD v4: 12-57763712-G-T
MyVariant Identifiers: chr12:g.58157495G>T (hg19) chr12:g.57763712G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763712G>T , CM000674.2:g.57763712G>T GRCh38
NC_000012.11:g.58157495G>T , CM000674.1:g.58157495G>T GRCh37
NC_000012.10:g.56443762G>T NCBI36
NG_007076.1:g.8482C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1393C>A ENSP00000518840.1:p.Pro465Thr
ENST00000713545.1:c.*317C>A ENSP00000518841.1:n.*317C>A
ENST00000228606.9:c.1312C>A MANE Select ENSP00000228606.4:p.Pro438Thr
ENST00000228606.8:c.1312C>A ENSP00000228606.4:p.Pro438Thr
ENST00000547344.5:n.1451C>A
NM_000785.3:c.1312C>A NP_000776.1:p.Pro438Thr
NM_000785.4:c.1312C>A MANE Select NP_000776.1:p.Pro438Thr
Search 100 bp 5'
Search 100 bp 3'