Canonical Allele Identifier: CA605325279

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1474600799
• gnomAD v2: 12-58159421-G-A
• gnomAD v3: 12-57765638-G-A
• gnomAD v4: 12-57765638-G-A
• MyVariant Identifiers: chr12:g.58159421G>A (hg19) ; chr12:g.57765638G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765638G>A , CM000674.2:g.57765638G>A	GRCh38
NC_000012.11:g.58159421G>A , CM000674.1:g.58159421G>A	GRCh37
NC_000012.10:g.56445688G>A	NCBI36
NG_007076.1:g.6556C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.299-139C>T
ENST00000713544.1:c.387-58C>T	ENSP00000518840.1:n.387-58C>T
ENST00000713545.1:c.387-81C>T	ENSP00000518841.1:n.387-81C>T
ENST00000228606.9:c.387-139C>T MANE Select	ENSP00000228606.4:n.387-139C>T
ENST00000228606.8:c.387-139C>T	ENSP00000228606.4:n.387-139C>T
ENST00000546496.1:n.215-139C>T
ENST00000546567.5:c.-458C>T	ENSP00000449472.1:n.-458C>T
ENST00000546609.1:c.299-139C>T
ENST00000547344.5:n.441-139C>T
ENST00000547451.1:n.48C>T
ENST00000552186.1:n.506-139C>T
NM_000785.3:c.387-139C>T	NP_000776.1:n.387-139C>T
NM_000785.4:c.387-139C>T MANE Select	NP_000776.1:n.387-139C>T