Canonical Allele Identifier: CA605706803
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs1428344839

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764212G>A , CM000674.2:g.57764212G>A GRCh38
NC_000012.11:g.58157995G>A , CM000674.1:g.58157995G>A GRCh37
NC_000012.10:g.56444262G>A NCBI36
NG_007076.1:g.7982C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1218-36C>T ENSP00000518840.1:n.1218-36C>T
ENST00000713545.1:c.*142-36C>T ENSP00000518841.1:n.*142-36C>T
ENST00000228606.9:c.1137-36C>T MANE Select ENSP00000228606.4:n.1137-36C>T
ENST00000228606.8:c.1137-36C>T ENSP00000228606.4:n.1137-36C>T
ENST00000546567.5:c.432-36C>T ENSP00000449472.1:n.432-36C>T
ENST00000547344.5:n.1276-36C>T
NM_000785.3:c.1137-36C>T NP_000776.1:n.1137-36C>T
NM_000785.4:c.1137-36C>T MANE Select NP_000776.1:n.1137-36C>T