Canonical Allele Identifier: CA385813492
Gene: BBS10 HGNC NCBI

Linked Data

gnomAD v4: 12-76347039-G-T
MyVariant Identifiers: chr12:g.76740819G>T (hg19) chr12:g.76347039G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347039G>T , CM000674.2:g.76347039G>T GRCh38
NC_000012.11:g.76740819G>T , CM000674.1:g.76740819G>T GRCh37
NC_000012.10:g.75264950G>T NCBI36
NG_016357.1:g.6404C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.946C>A MANE Select ENSP00000497413.1:p.Pro316Thr
ENST00000393262.3:c.946C>A ENSP00000376946.3:p.Pro316Thr
NM_024685.3:c.946C>A NP_078961.3:p.Pro316Thr
NM_024685.4:c.946C>A MANE Select NP_078961.3:p.Pro316Thr
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