Canonical Allele Identifier: CA385810757
Gene: BBS10 HGNC NCBI

Linked Data

dbSNP Id: rs1951757790
gnomAD v3: 12-76346360-T-A
gnomAD v4: 12-76346360-T-A
MyVariant Identifiers: chr12:g.76740140T>A (hg19) chr12:g.76346360T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346360T>A , CM000674.2:g.76346360T>A GRCh38
NC_000012.11:g.76740140T>A , CM000674.1:g.76740140T>A GRCh37
NC_000012.10:g.75264271T>A NCBI36
NG_016357.1:g.7083A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1625A>T MANE Select ENSP00000497413.1:p.Lys542Met
ENST00000393262.3:c.1625A>T ENSP00000376946.3:p.Lys542Met
NM_024685.3:c.1625A>T NP_078961.3:p.Lys542Met
NM_024685.4:c.1625A>T MANE Select NP_078961.3:p.Lys542Met
Search 100 bp 5'
Search 100 bp 3'