Canonical Allele Identifier: CA6694074
Gene: BBS10 HGNC NCBI

Linked Data

dbSNP Id: rs753778677
ExAC: 12:76739811 A / G
gnomAD v2: 12-76739811-A-G
gnomAD v4: 12-76346031-A-G
MyVariant Identifiers: chr12:g.76739811A>G (hg19) chr12:g.76346031A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346031A>G , CM000674.2:g.76346031A>G GRCh38
NC_000012.11:g.76739811A>G , CM000674.1:g.76739811A>G GRCh37
NC_000012.10:g.75263942A>G NCBI36
NG_016357.1:g.7412T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1954T>C MANE Select ENSP00000497413.1:p.Tyr652His
ENST00000393262.3:c.1954T>C ENSP00000376946.3:p.Tyr652His
NM_024685.3:c.1954T>C NP_078961.3:p.Tyr652His
NM_024685.4:c.1954T>C MANE Select NP_078961.3:p.Tyr652His
Search 100 bp 5'
Search 100 bp 3'