Canonical Allele Identifier: CA385505722

Gene: CYP27B1

Linked Data

• dbSNP Id: rs761780097
• gnomAD v3: 12-57765296-C-G
• gnomAD v4: 12-57765296-C-G
• MyVariant Identifiers: chr12:g.58159079C>G (hg19) ; chr12:g.57765296C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765296C>G , CM000674.2:g.57765296C>G	GRCh38
NC_000012.11:g.58159079C>G , CM000674.1:g.58159079C>G	GRCh37
NC_000012.10:g.56445346C>G	NCBI36
NG_007076.1:g.6898G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.501+1G>C
ENST00000713544.1:c.670+1G>C	ENSP00000518840.1:n.670+1G>C
ENST00000713545.1:c.647+1G>C	ENSP00000518841.1:n.647+1G>C
ENST00000228606.9:c.589+1G>C MANE Select	ENSP00000228606.4:n.589+1G>C
ENST00000228606.8:c.589+1G>C	ENSP00000228606.4:n.589+1G>C
ENST00000546567.5:c.-117+1G>C	ENSP00000449472.1:n.-117+1G>C
ENST00000546609.1:c.501+1G>C
ENST00000547344.5:n.644G>C
ENST00000547451.1:n.389+1G>C
NM_000785.3:c.589+1G>C	NP_000776.1:n.589+1G>C
NM_000785.4:c.589+1G>C MANE Select	NP_000776.1:n.589+1G>C