Canonical Allele Identifier: CA6658269
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs762038212
ExAC: 12:58158414 A / G
gnomAD v2: 12-58158414-A-G
gnomAD v3: 12-57764631-A-G
gnomAD v4: 12-57764631-A-G
MyVariant Identifiers: chr12:g.58158414A>G (hg19) chr12:g.57764631A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764631A>G , CM000674.2:g.57764631A>G GRCh38
NC_000012.11:g.58158414A>G , CM000674.1:g.58158414A>G GRCh37
NC_000012.10:g.56444681A>G NCBI36
NG_007076.1:g.7563T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1045-81T>C ENSP00000518840.1:n.1045-81T>C
ENST00000713545.1:c.1022-81T>C ENSP00000518841.1:n.1022-81T>C
ENST00000228606.9:c.964-81T>C MANE Select ENSP00000228606.4:n.964-81T>C
ENST00000228606.8:c.964-81T>C ENSP00000228606.4:n.964-81T>C
ENST00000546567.5:c.259-81T>C ENSP00000449472.1:n.259-81T>C
ENST00000547344.5:n.1103-81T>C
ENST00000547451.1:n.886T>C
NM_000785.3:c.964-81T>C NP_000776.1:n.964-81T>C
NM_000785.4:c.964-81T>C MANE Select NP_000776.1:n.964-81T>C
Search 100 bp 5'
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