Canonical Allele Identifier: CA2038987315
Gene: CYP27B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764329C= , CM000674.2:g.57764329C= GRCh38
NC_000012.11:g.58158112C= , CM000674.1:g.58158112C= GRCh37
NC_000012.10:g.56444379C= NCBI36
NG_007076.1:g.7865G=

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1217+49G= ENSP00000518840.1:n.1217+49G=
ENST00000713545.1:c.*141+49G= ENSP00000518841.1:n.*141+49G=
ENST00000228606.9:c.1136+49G= MANE Select ENSP00000228606.4:n.1136+49G=
ENST00000228606.8:c.1136+49G= ENSP00000228606.4:n.1136+49G=
ENST00000546567.5:c.431+49G= ENSP00000449472.1:n.431+49G=
ENST00000547344.5:n.1275+49G=
NM_000785.3:c.1136+49G= NP_000776.1:n.1136+49G=
NM_000785.4:c.1136+49G= MANE Select NP_000776.1:n.1136+49G=
Search 100 bp 5'
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