Canonical Allele Identifier: CA6658508
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 955237
ClinVar RCV Id: RCV001227842
dbSNP Id: rs772960103
ExAC: 12:58159982 T / C
gnomAD v2: 12-58159982-T-C
gnomAD v3: 12-57766199-T-C
gnomAD v4: 12-57766199-T-C
MyVariant Identifiers: chr12:g.58159982T>C (hg19) chr12:g.58159982_58159983delinsCG (hg19) chr12:g.57766199T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766199T>C , CM000674.2:g.57766199T>C GRCh38
NC_000012.11:g.58159982T>C , CM000674.1:g.58159982T>C GRCh37
NC_000012.10:g.56446249T>C NCBI36
NG_007076.1:g.5995A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.108-2A>G
ENST00000713544.1:c.196-2A>G ENSP00000518840.1:n.196-2A>G
ENST00000713545.1:c.196-2A>G ENSP00000518841.1:n.196-2A>G
ENST00000228606.9:c.196-2A>G MANE Select ENSP00000228606.4:n.196-2A>G
ENST00000228606.8:c.196-2A>G ENSP00000228606.4:n.196-2A>G
ENST00000546496.1:n.24-2A>G
ENST00000546609.1:c.108-2A>G
ENST00000547344.5:n.250-2A>G
ENST00000552186.1:n.313A>G
NM_000785.3:c.196-2A>G NP_000776.1:n.196-2A>G
NM_000785.4:c.196-2A>G MANE Select NP_000776.1:n.196-2A>G
Search 100 bp 5'
Search 100 bp 3'