Canonical Allele Identifier: CA6694126
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 417949
ClinVar RCV Id: RCV000477827 RCV000818478 RCV001075280 RCV001528233 RCV003960121
dbSNP Id: rs375413604
ExAC: 12:76740088 G / T
gnomAD v2: 12-76740088-G-T
gnomAD v3: 12-76346308-G-T
gnomAD v4: 12-76346308-G-T
MyVariant Identifiers: chr12:g.76740088G>T (hg19) chr12:g.76346308G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346308G>T , CM000674.2:g.76346308G>T GRCh38
NC_000012.11:g.76740088G>T , CM000674.1:g.76740088G>T GRCh37
NC_000012.10:g.75264219G>T NCBI36
NG_016357.1:g.7135C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1677C>A MANE Select ENSP00000497413.1:p.Tyr559Ter
ENST00000393262.3:c.1677C>A ENSP00000376946.3:p.Tyr559Ter
NM_024685.3:c.1677C>A NP_078961.3:p.Tyr559Ter
NM_024685.4:c.1677C>A MANE Select NP_078961.3:p.Tyr559Ter
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Search 100 bp 3'