Canonical Allele Identifier: CA385501051
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763720C>G , CM000674.2:g.57763720C>G GRCh38
NC_000012.11:g.58157503C>G , CM000674.1:g.58157503C>G GRCh37
NC_000012.10:g.56443770C>G NCBI36
NG_007076.1:g.8474G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1385G>C ENSP00000518840.1:p.Gly462Ala
ENST00000713545.1:c.*309G>C ENSP00000518841.1:n.*309G>C
ENST00000228606.9:c.1304G>C MANE Select ENSP00000228606.4:p.Gly435Ala
ENST00000228606.8:c.1304G>C ENSP00000228606.4:p.Gly435Ala
ENST00000547344.5:n.1443G>C
NM_000785.3:c.1304G>C NP_000776.1:p.Gly435Ala
NM_000785.4:c.1304G>C MANE Select NP_000776.1:p.Gly435Ala