Canonical Allele Identifier: CA385500909
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763685G>A , CM000674.2:g.57763685G>A GRCh38
NC_000012.11:g.58157468G>A , CM000674.1:g.58157468G>A GRCh37
NC_000012.10:g.56443735G>A NCBI36
NG_007076.1:g.8509C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1420C>T ENSP00000518840.1:p.Pro474Ser
ENST00000713545.1:c.*344C>T ENSP00000518841.1:n.*344C>T
ENST00000228606.9:c.1339C>T MANE Select ENSP00000228606.4:p.Pro447Ser
ENST00000228606.8:c.1339C>T ENSP00000228606.4:p.Pro447Ser
ENST00000547344.5:n.1478C>T
NM_000785.3:c.1339C>T NP_000776.1:p.Pro447Ser
NM_000785.4:c.1339C>T MANE Select NP_000776.1:p.Pro447Ser