Canonical Allele Identifier: CA237813742
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs769534483
gnomAD v4: 12-57763770-G-A
MyVariant Identifiers: chr12:g.58157553G>A (hg19) chr12:g.57763770G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763770G>A , CM000674.2:g.57763770G>A GRCh38
NC_000012.11:g.58157553G>A , CM000674.1:g.58157553G>A GRCh37
NC_000012.10:g.56443820G>A NCBI36
NG_007076.1:g.8424C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1335C>T ENSP00000518840.1:p.Asp445=
ENST00000713545.1:c.*259C>T ENSP00000518841.1:n.*259C>T
ENST00000228606.9:c.1254C>T MANE Select ENSP00000228606.4:p.Asp418=
ENST00000228606.8:c.1254C>T ENSP00000228606.4:p.Asp418=
ENST00000547344.5:n.1393C>T
NM_000785.3:c.1254C>T NP_000776.1:p.Asp418=
NM_000785.4:c.1254C>T MANE Select NP_000776.1:p.Asp418=
Search 100 bp 5'
Search 100 bp 3'