Canonical Allele Identifier: CA605706796

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1313650068
• gnomAD v2: 12-58158355-G-C
• gnomAD v4: 12-57764572-G-C
• MyVariant Identifiers: chr12:g.58158355G>C (hg19) ; chr12:g.57764572G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764572G>C , CM000674.2:g.57764572G>C	GRCh38
NC_000012.11:g.58158355G>C , CM000674.1:g.58158355G>C	GRCh37
NC_000012.10:g.56444622G>C	NCBI36
NG_007076.1:g.7622C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1045-22C>G	ENSP00000518840.1:n.1045-22C>G
ENST00000713545.1:c.1022-22C>G	ENSP00000518841.1:n.1022-22C>G
ENST00000228606.9:c.964-22C>G MANE Select	ENSP00000228606.4:n.964-22C>G
ENST00000228606.8:c.964-22C>G	ENSP00000228606.4:n.964-22C>G
ENST00000546567.5:c.259-22C>G	ENSP00000449472.1:n.259-22C>G
ENST00000547344.5:n.1103-22C>G
ENST00000547451.1:n.945C>G
NM_000785.3:c.964-22C>G	NP_000776.1:n.964-22C>G
NM_000785.4:c.964-22C>G MANE Select	NP_000776.1:n.964-22C>G