Canonical Allele Identifier: CA385813472
Gene: BBS10 HGNC NCBI

Linked Data

gnomAD v4: 12-76347035-T-A
MyVariant Identifiers: chr12:g.76740815T>A (hg19) chr12:g.76347035T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347035T>A , CM000674.2:g.76347035T>A GRCh38
NC_000012.11:g.76740815T>A , CM000674.1:g.76740815T>A GRCh37
NC_000012.10:g.75264946T>A NCBI36
NG_016357.1:g.6408A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.950A>T MANE Select ENSP00000497413.1:p.Asp317Val
ENST00000393262.3:c.950A>T ENSP00000376946.3:p.Asp317Val
NM_024685.3:c.950A>T NP_078961.3:p.Asp317Val
NM_024685.4:c.950A>T MANE Select NP_078961.3:p.Asp317Val
Search 100 bp 5'
Search 100 bp 3'