Canonical Allele Identifier: CA6658392

Gene: CYP27B1

Linked Data

• dbSNP Id: rs745388058
• ExAC: 12:58159035 G / C
• gnomAD v2: 12-58159035-G-C
• gnomAD v4: 12-57765252-G-C
• MyVariant Identifiers: chr12:g.58159035G>C (hg19) ; chr12:g.57765252G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765252G>C , CM000674.2:g.57765252G>C	GRCh38
NC_000012.11:g.58159035G>C , CM000674.1:g.58159035G>C	GRCh37
NC_000012.10:g.56445302G>C	NCBI36
NG_007076.1:g.6942C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.502-41C>G
ENST00000713544.1:c.671-41C>G	ENSP00000518840.1:n.671-41C>G
ENST00000713545.1:c.648-41C>G	ENSP00000518841.1:n.648-41C>G
ENST00000228606.9:c.590-41C>G MANE Select	ENSP00000228606.4:n.590-41C>G
ENST00000228606.8:c.590-41C>G	ENSP00000228606.4:n.590-41C>G
ENST00000546567.5:c.-116-41C>G	ENSP00000449472.1:n.-116-41C>G
ENST00000546609.1:c.502-41C>G
ENST00000547344.5:n.688C>G
ENST00000547451.1:n.390-41C>G
NM_000785.3:c.590-41C>G	NP_000776.1:n.590-41C>G
NM_000785.4:c.590-41C>G MANE Select	NP_000776.1:n.590-41C>G