Canonical Allele Identifier: CA237813889

Gene: CYP27B1

Linked Data

• dbSNP Id: rs900920275
• gnomAD v3: 12-57764054-A-G
• gnomAD v4: 12-57764054-A-G
• MyVariant Identifiers: chr12:g.58157837A>G (hg19) ; chr12:g.57764054A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764054A>G , CM000674.2:g.57764054A>G	GRCh38
NC_000012.11:g.58157837A>G , CM000674.1:g.58157837A>G	GRCh37
NC_000012.10:g.56444104A>G	NCBI36
NG_007076.1:g.8140T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1296+44T>C	ENSP00000518840.1:n.1296+44T>C
ENST00000713545.1:c.*220+44T>C	ENSP00000518841.1:n.*220+44T>C
ENST00000228606.9:c.1215+44T>C MANE Select	ENSP00000228606.4:n.1215+44T>C
ENST00000228606.8:c.1215+44T>C	ENSP00000228606.4:n.1215+44T>C
ENST00000547344.5:n.1354+44T>C
NM_000785.3:c.1215+44T>C	NP_000776.1:n.1215+44T>C
NM_000785.4:c.1215+44T>C MANE Select	NP_000776.1:n.1215+44T>C