Canonical Allele Identifier: CA6658153
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs757358360
ExAC: 12:58157488 G / C
gnomAD v2: 12-58157488-G-C
gnomAD v4: 12-57763705-G-C
MyVariant Identifiers: chr12:g.58157488G>C (hg19) chr12:g.57763705G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763705G>C , CM000674.2:g.57763705G>C GRCh38
NC_000012.11:g.58157488G>C , CM000674.1:g.58157488G>C GRCh37
NC_000012.10:g.56443755G>C NCBI36
NG_007076.1:g.8489C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1400C>G ENSP00000518840.1:p.Pro467Arg
ENST00000713545.1:c.*324C>G ENSP00000518841.1:n.*324C>G
ENST00000228606.9:c.1319C>G MANE Select ENSP00000228606.4:p.Pro440Arg
ENST00000228606.8:c.1319C>G ENSP00000228606.4:p.Pro440Arg
ENST00000547344.5:n.1458C>G
NM_000785.3:c.1319C>G NP_000776.1:p.Pro440Arg
NM_000785.4:c.1319C>G MANE Select NP_000776.1:p.Pro440Arg
Search 100 bp 5'
Search 100 bp 3'