Canonical Allele Identifier: CA385503706
Gene: CYP27B1 HGNC NCBI

Linked Data

gnomAD v4: 12-57764460-T-C
MyVariant Identifiers: chr12:g.58158243T>C (hg19) chr12:g.57764460T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764460T>C , CM000674.2:g.57764460T>C GRCh38
NC_000012.11:g.58158243T>C , CM000674.1:g.58158243T>C GRCh37
NC_000012.10:g.56444510T>C NCBI36
NG_007076.1:g.7734A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1135A>G ENSP00000518840.1:p.Ser379Gly
ENST00000713545.1:c.*59A>G ENSP00000518841.1:n.*59A>G
ENST00000228606.9:c.1054A>G MANE Select ENSP00000228606.4:p.Ser352Gly
ENST00000228606.8:c.1054A>G ENSP00000228606.4:p.Ser352Gly
ENST00000546567.5:c.349A>G ENSP00000449472.1:p.Ser117Gly
ENST00000547344.5:n.1193A>G
NM_000785.3:c.1054A>G NP_000776.1:p.Ser352Gly
NM_000785.4:c.1054A>G MANE Select NP_000776.1:p.Ser352Gly
Search 100 bp 5'
Search 100 bp 3'