Canonical Allele Identifier: CA2038991253
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs1955360626
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766341T>C , CM000674.2:g.57766341T>C GRCh38
NC_000012.11:g.58160124T>C , CM000674.1:g.58160124T>C GRCh37
NC_000012.10:g.56446391T>C NCBI36
NG_007076.1:g.5853A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.108-144A>G
ENST00000713544.1:c.196-144A>G ENSP00000518840.1:n.196-144A>G
ENST00000713545.1:c.196-144A>G ENSP00000518841.1:n.196-144A>G
ENST00000228606.9:c.196-144A>G MANE Select ENSP00000228606.4:n.196-144A>G
ENST00000228606.8:c.196-144A>G ENSP00000228606.4:n.196-144A>G
ENST00000546496.1:n.23+93A>G
ENST00000546609.1:c.108-144A>G
ENST00000547344.5:n.250-144A>G
ENST00000552186.1:n.171A>G
NM_000785.3:c.196-144A>G NP_000776.1:n.196-144A>G
NM_000785.4:c.196-144A>G MANE Select NP_000776.1:n.196-144A>G
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