Canonical Allele Identifier: CA6694120
Gene: BBS10 HGNC NCBI

Linked Data

dbSNP Id: rs754445290
ExAC: 12:76740071 G / T
gnomAD v2: 12-76740071-G-T
gnomAD v4: 12-76346291-G-T
MyVariant Identifiers: chr12:g.76740071G>T (hg19) chr12:g.76346291G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346291G>T , CM000674.2:g.76346291G>T GRCh38
NC_000012.11:g.76740071G>T , CM000674.1:g.76740071G>T GRCh37
NC_000012.10:g.75264202G>T NCBI36
NG_016357.1:g.7152C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1694C>A MANE Select ENSP00000497413.1:p.Thr565Lys
ENST00000393262.3:c.1694C>A ENSP00000376946.3:p.Thr565Lys
NM_024685.3:c.1694C>A NP_078961.3:p.Thr565Lys
NM_024685.4:c.1694C>A MANE Select NP_078961.3:p.Thr565Lys
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Search 100 bp 3'