Canonical Allele Identifier: CA385505376
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765136A>C , CM000674.2:g.57765136A>C GRCh38
NC_000012.11:g.58158919A>C , CM000674.1:g.58158919A>C GRCh37
NC_000012.10:g.56445186A>C NCBI36
NG_007076.1:g.7058T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.577T>G
ENST00000713544.1:c.746T>G ENSP00000518840.1:p.Ile249Ser
ENST00000713545.1:c.723T>G ENSP00000518841.1:p.His241Gln
ENST00000228606.9:c.665T>G MANE Select ENSP00000228606.4:p.Ile222Ser
ENST00000228606.8:c.665T>G ENSP00000228606.4:p.Ile222Ser
ENST00000546567.5:c.-41T>G ENSP00000449472.1:n.-41T>G
ENST00000546609.1:c.577T>G
ENST00000547344.5:n.804T>G
ENST00000547451.1:n.465T>G
NM_000785.3:c.665T>G NP_000776.1:p.Ile222Ser
NM_000785.4:c.665T>G MANE Select NP_000776.1:p.Ile222Ser