Canonical Allele Identifier: CA237815454

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1029874907
• gnomAD v2: 12-58159716-T-C
• gnomAD v3: 12-57765933-T-C
• gnomAD v4: 12-57765933-T-C
• MyVariant Identifiers: chr12:g.58159716T>C (hg19) ; chr12:g.57765933T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765933T>C , CM000674.2:g.57765933T>C	GRCh38
NC_000012.11:g.58159716T>C , CM000674.1:g.58159716T>C	GRCh37
NC_000012.10:g.56445983T>C	NCBI36
NG_007076.1:g.6261A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.298+74A>G
ENST00000713544.1:c.386+74A>G	ENSP00000518840.1:n.386+74A>G
ENST00000713545.1:c.386+74A>G	ENSP00000518841.1:n.386+74A>G
ENST00000228606.9:c.386+74A>G MANE Select	ENSP00000228606.4:n.386+74A>G
ENST00000228606.8:c.386+74A>G	ENSP00000228606.4:n.386+74A>G
ENST00000546496.1:n.214+74A>G
ENST00000546609.1:c.298+74A>G
ENST00000547344.5:n.440+74A>G
ENST00000552186.1:n.505+74A>G
NM_000785.3:c.386+74A>G	NP_000776.1:n.386+74A>G
NM_000785.4:c.386+74A>G MANE Select	NP_000776.1:n.386+74A>G