Canonical Allele Identifier: CA2607705989

Gene: CYP27B1

Linked Data

• dbSNP Id: rs2140397497
• gnomAD v4: 12-57765876-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765876A>C , CM000674.2:g.57765876A>C	GRCh38
NC_000012.11:g.58159659A>C , CM000674.1:g.58159659A>C	GRCh37
NC_000012.10:g.56445926A>C	NCBI36
NG_007076.1:g.6318T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.298+131T>G
ENST00000713544.1:c.386+131T>G	ENSP00000518840.1:n.386+131T>G
ENST00000713545.1:c.386+131T>G	ENSP00000518841.1:n.386+131T>G
ENST00000228606.9:c.386+131T>G MANE Select	ENSP00000228606.4:n.386+131T>G
ENST00000228606.8:c.386+131T>G	ENSP00000228606.4:n.386+131T>G
ENST00000546496.1:n.214+131T>G
ENST00000546609.1:c.298+131T>G
ENST00000547344.5:n.440+131T>G
ENST00000552186.1:n.505+131T>G
NM_000785.3:c.386+131T>G	NP_000776.1:n.386+131T>G
NM_000785.4:c.386+131T>G MANE Select	NP_000776.1:n.386+131T>G