Canonical Allele Identifier: CA385503804
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58158263G>A (hg19) chr12:g.57764480G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764480G>A , CM000674.2:g.57764480G>A GRCh38
NC_000012.11:g.58158263G>A , CM000674.1:g.58158263G>A GRCh37
NC_000012.10:g.56444530G>A NCBI36
NG_007076.1:g.7714C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1115C>T ENSP00000518840.1:p.Ser372Leu
ENST00000713545.1:c.*39C>T ENSP00000518841.1:n.*39C>T
ENST00000228606.9:c.1034C>T MANE Select ENSP00000228606.4:p.Ser345Leu
ENST00000228606.8:c.1034C>T ENSP00000228606.4:p.Ser345Leu
ENST00000546567.5:c.329C>T ENSP00000449472.1:p.Ser110Leu
ENST00000547344.5:n.1173C>T
NM_000785.3:c.1034C>T NP_000776.1:p.Ser345Leu
NM_000785.4:c.1034C>T MANE Select NP_000776.1:p.Ser345Leu
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