Canonical Allele Identifier: CA2575230717
Gene: BBS10 HGNC NCBI

Linked Data

gnomAD v4: 12-76345747-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345747G>T , CM000674.2:g.76345747G>T GRCh38
NC_000012.11:g.76739527G>T , CM000674.1:g.76739527G>T GRCh37
NC_000012.10:g.75263658G>T NCBI36
NG_016357.1:g.7696C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.*66C>A MANE Select ENSP00000497413.1:n.*66C>A
ENST00000393262.3:c.*66C>A ENSP00000376946.3:n.*66C>A
NM_024685.3:c.*66C>A NP_078961.3:n.*66C>A
NM_024685.4:c.*66C>A MANE Select NP_078961.3:n.*66C>A
Search 100 bp 5'
Search 100 bp 3'