Canonical Allele Identifier: CA237815421
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs569709279
gnomAD v3: 12-57765838-G-T
gnomAD v4: 12-57765838-G-T
MyVariant Identifiers: chr12:g.58159621G>T (hg19) chr12:g.57765838G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765838G>T , CM000674.2:g.57765838G>T GRCh38
NC_000012.11:g.58159621G>T , CM000674.1:g.58159621G>T GRCh37
NC_000012.10:g.56445888G>T NCBI36
NG_007076.1:g.6356C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.298+169C>A
ENST00000713544.1:c.386+169C>A ENSP00000518840.1:n.386+169C>A
ENST00000713545.1:c.386+169C>A ENSP00000518841.1:n.386+169C>A
ENST00000228606.9:c.386+169C>A MANE Select ENSP00000228606.4:n.386+169C>A
ENST00000228606.8:c.386+169C>A ENSP00000228606.4:n.386+169C>A
ENST00000546496.1:n.214+169C>A
ENST00000546609.1:c.298+169C>A
ENST00000547344.5:n.440+169C>A
ENST00000552186.1:n.505+169C>A
NM_000785.3:c.386+169C>A NP_000776.1:n.386+169C>A
NM_000785.4:c.386+169C>A MANE Select NP_000776.1:n.386+169C>A
Search 100 bp 5'
Search 100 bp 3'