Canonical Allele Identifier: CA2619515672
Gene: CYP27B1 HGNC NCBI

Linked Data

gnomAD v4: 12-57764332-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764332C>A , CM000674.2:g.57764332C>A GRCh38
NC_000012.11:g.58158115C>A , CM000674.1:g.58158115C>A GRCh37
NC_000012.10:g.56444382C>A NCBI36
NG_007076.1:g.7862G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1217+46G>T ENSP00000518840.1:n.1217+46G>T
ENST00000713545.1:c.*141+46G>T ENSP00000518841.1:n.*141+46G>T
ENST00000228606.9:c.1136+46G>T MANE Select ENSP00000228606.4:n.1136+46G>T
ENST00000228606.8:c.1136+46G>T ENSP00000228606.4:n.1136+46G>T
ENST00000546567.5:c.431+46G>T ENSP00000449472.1:n.431+46G>T
ENST00000547344.5:n.1275+46G>T
NM_000785.3:c.1136+46G>T NP_000776.1:n.1136+46G>T
NM_000785.4:c.1136+46G>T MANE Select NP_000776.1:n.1136+46G>T
Search 100 bp 5'
Search 100 bp 3'