Canonical Allele Identifier: CA6694126

Gene: BBS10

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)

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