Canonical Allele Identifier: CA385810826
Gene: BBS10 HGNC NCBI

Linked Data

dbSNP Id: rs1951758129
gnomAD v3: 12-76346384-G-A
gnomAD v4: 12-76346384-G-A
MyVariant Identifiers: chr12:g.76740164G>A (hg19) chr12:g.76346384G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346384G>A , CM000674.2:g.76346384G>A GRCh38
NC_000012.11:g.76740164G>A , CM000674.1:g.76740164G>A GRCh37
NC_000012.10:g.75264295G>A NCBI36
NG_016357.1:g.7059C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1601C>T MANE Select ENSP00000497413.1:p.Thr534Ile
ENST00000393262.3:c.1601C>T ENSP00000376946.3:p.Thr534Ile
NM_024685.3:c.1601C>T NP_078961.3:p.Thr534Ile
NM_024685.4:c.1601C>T MANE Select NP_078961.3:p.Thr534Ile
Search 100 bp 5'
Search 100 bp 3'