Canonical Allele Identifier: CA237817920
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs576741401
gnomAD v4: 12-57766399-A-C
MyVariant Identifiers: chr12:g.58160182A>C (hg19) chr12:g.57766399A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766399A>C , CM000674.2:g.57766399A>C GRCh38
NC_000012.11:g.58160182A>C , CM000674.1:g.58160182A>C GRCh37
NC_000012.10:g.56446449A>C NCBI36
NG_007076.1:g.5795T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.108-202T>G
ENST00000713544.1:c.196-202T>G ENSP00000518840.1:n.196-202T>G
ENST00000713545.1:c.196-202T>G ENSP00000518841.1:n.196-202T>G
ENST00000228606.9:c.196-202T>G MANE Select ENSP00000228606.4:n.196-202T>G
ENST00000228606.8:c.196-202T>G ENSP00000228606.4:n.196-202T>G
ENST00000546496.1:n.23+35T>G
ENST00000546609.1:c.108-202T>G
ENST00000547344.5:n.250-202T>G
ENST00000552186.1:n.113T>G
NM_000785.3:c.196-202T>G NP_000776.1:n.196-202T>G
NM_000785.4:c.196-202T>G MANE Select NP_000776.1:n.196-202T>G
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