Canonical Allele Identifier: CA385503517
Gene: CYP27B1 HGNC NCBI

Linked Data

gnomAD v4: 12-57764438-G-C
MyVariant Identifiers: chr12:g.58158221G>C (hg19) chr12:g.57764438G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764438G>C , CM000674.2:g.57764438G>C GRCh38
NC_000012.11:g.58158221G>C , CM000674.1:g.58158221G>C GRCh37
NC_000012.10:g.56444488G>C NCBI36
NG_007076.1:g.7756C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1157C>G ENSP00000518840.1:p.Pro386Arg
ENST00000713545.1:c.*81C>G ENSP00000518841.1:n.*81C>G
ENST00000228606.9:c.1076C>G MANE Select ENSP00000228606.4:p.Pro359Arg
ENST00000228606.8:c.1076C>G ENSP00000228606.4:p.Pro359Arg
ENST00000546567.5:c.371C>G ENSP00000449472.1:p.Pro124Arg
ENST00000547344.5:n.1215C>G
NM_000785.3:c.1076C>G NP_000776.1:p.Pro359Arg
NM_000785.4:c.1076C>G MANE Select NP_000776.1:p.Pro359Arg
Search 100 bp 5'
Search 100 bp 3'