Canonical Allele Identifier: CA690331810

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1251481279
• gnomAD v3: 12-57765915-C-T
• gnomAD v4: 12-57765915-C-T
• MyVariant Identifiers: chr12:g.58159698C>T (hg19) ; chr12:g.57765915C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765915C>T , CM000674.2:g.57765915C>T	GRCh38
NC_000012.11:g.58159698C>T , CM000674.1:g.58159698C>T	GRCh37
NC_000012.10:g.56445965C>T	NCBI36
NG_007076.1:g.6279G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.298+92G>A
ENST00000713544.1:c.386+92G>A	ENSP00000518840.1:n.386+92G>A
ENST00000713545.1:c.386+92G>A	ENSP00000518841.1:n.386+92G>A
ENST00000228606.9:c.386+92G>A MANE Select	ENSP00000228606.4:n.386+92G>A
ENST00000228606.8:c.386+92G>A	ENSP00000228606.4:n.386+92G>A
ENST00000546496.1:n.214+92G>A
ENST00000546609.1:c.298+92G>A
ENST00000547344.5:n.440+92G>A
ENST00000552186.1:n.505+92G>A
NM_000785.3:c.386+92G>A	NP_000776.1:n.386+92G>A
NM_000785.4:c.386+92G>A MANE Select	NP_000776.1:n.386+92G>A