Canonical Allele Identifier: CA385501129
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs1955337038
gnomAD v4: 12-57763748-T-C
MyVariant Identifiers: chr12:g.58157531T>C (hg19) chr12:g.57763748T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763748T>C , CM000674.2:g.57763748T>C GRCh38
NC_000012.11:g.58157531T>C , CM000674.1:g.58157531T>C GRCh37
NC_000012.10:g.56443798T>C NCBI36
NG_007076.1:g.8446A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1357A>G ENSP00000518840.1:p.Asn453Asp
ENST00000713545.1:c.*281A>G ENSP00000518841.1:n.*281A>G
ENST00000228606.9:c.1276A>G MANE Select ENSP00000228606.4:p.Asn426Asp
ENST00000228606.8:c.1276A>G ENSP00000228606.4:p.Asn426Asp
ENST00000547344.5:n.1415A>G
NM_000785.3:c.1276A>G NP_000776.1:p.Asn426Asp
NM_000785.4:c.1276A>G MANE Select NP_000776.1:p.Asn426Asp
Search 100 bp 5'
Search 100 bp 3'