Canonical Allele Identifier: CA2619518138
Gene: CYP27B1 HGNC NCBI

Linked Data

gnomAD v4: 12-57765701-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765701T>G , CM000674.2:g.57765701T>G GRCh38
NC_000012.11:g.58159484T>G , CM000674.1:g.58159484T>G GRCh37
NC_000012.10:g.56445751T>G NCBI36
NG_007076.1:g.6493A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.299-202A>C
ENST00000713544.1:c.387-121A>C ENSP00000518840.1:n.387-121A>C
ENST00000713545.1:c.387-144A>C ENSP00000518841.1:n.387-144A>C
ENST00000228606.9:c.387-202A>C MANE Select ENSP00000228606.4:n.387-202A>C
ENST00000228606.8:c.387-202A>C ENSP00000228606.4:n.387-202A>C
ENST00000546496.1:n.215-202A>C
ENST00000546609.1:c.299-202A>C
ENST00000547344.5:n.441-202A>C
ENST00000552186.1:n.506-202A>C
NM_000785.3:c.387-202A>C NP_000776.1:n.387-202A>C
NM_000785.4:c.387-202A>C MANE Select NP_000776.1:n.387-202A>C
Search 100 bp 5'
Search 100 bp 3'