Canonical Allele Identifier: CA481010550
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1160496
ClinVar RCV Id: RCV001504672 RCV001832667
dbSNP Id: rs1003705267
gnomAD v2: 12-76739598-G-A
gnomAD v4: 12-76345818-G-A
MyVariant Identifiers: chr12:g.76739598G>A (hg19) chr12:g.76345818G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345818G>A , CM000674.2:g.76345818G>A GRCh38
NC_000012.11:g.76739598G>A , CM000674.1:g.76739598G>A GRCh37
NC_000012.10:g.75263729G>A NCBI36
NG_016357.1:g.7625C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2167C>T MANE Select ENSP00000497413.1:p.Leu723=
ENST00000393262.3:c.2167C>T ENSP00000376946.3:p.Leu723=
NM_024685.3:c.2167C>T NP_078961.3:p.Leu723=
NM_024685.4:c.2167C>T MANE Select NP_078961.3:p.Leu723=
Search 100 bp 5'
Search 100 bp 3'