Canonical Allele Identifier: CA385503496
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58158218G>C (hg19) chr12:g.57764435G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764435G>C , CM000674.2:g.57764435G>C GRCh38
NC_000012.11:g.58158218G>C , CM000674.1:g.58158218G>C GRCh37
NC_000012.10:g.56444485G>C NCBI36
NG_007076.1:g.7759C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1160C>G ENSP00000518840.1:p.Ser387Ter
ENST00000713545.1:c.*84C>G ENSP00000518841.1:n.*84C>G
ENST00000228606.9:c.1079C>G MANE Select ENSP00000228606.4:p.Ser360Ter
ENST00000228606.8:c.1079C>G ENSP00000228606.4:p.Ser360Ter
ENST00000546567.5:c.374C>G ENSP00000449472.1:p.Ser125Ter
ENST00000547344.5:n.1218C>G
NM_000785.3:c.1079C>G NP_000776.1:p.Ser360Ter
NM_000785.4:c.1079C>G MANE Select NP_000776.1:p.Ser360Ter
Search 100 bp 5'
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