Canonical Allele Identifier: CA605706857

Gene: CYP27B1

Linked Data

• dbSNP Id: rs779577823
• gnomAD v2: 12-58159044-C-T
• gnomAD v3: 12-57765261-C-T
• gnomAD v4: 12-57765261-C-T
• MyVariant Identifiers: chr12:g.58159044C>T (hg19) ; chr12:g.57765261C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765261C>T , CM000674.2:g.57765261C>T	GRCh38
NC_000012.11:g.58159044C>T , CM000674.1:g.58159044C>T	GRCh37
NC_000012.10:g.56445311C>T	NCBI36
NG_007076.1:g.6933G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.501+36G>A
ENST00000713544.1:c.670+36G>A	ENSP00000518840.1:n.670+36G>A
ENST00000713545.1:c.647+36G>A	ENSP00000518841.1:n.647+36G>A
ENST00000228606.9:c.589+36G>A MANE Select	ENSP00000228606.4:n.589+36G>A
ENST00000228606.8:c.589+36G>A	ENSP00000228606.4:n.589+36G>A
ENST00000546567.5:c.-117+36G>A	ENSP00000449472.1:n.-117+36G>A
ENST00000546609.1:c.501+36G>A
ENST00000547344.5:n.679G>A
ENST00000547451.1:n.389+36G>A
NM_000785.3:c.589+36G>A	NP_000776.1:n.589+36G>A
NM_000785.4:c.589+36G>A MANE Select	NP_000776.1:n.589+36G>A