Canonical Allele Identifier: CA385810112
Gene: BBS10 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.76740011G>T (hg19) chr12:g.76346231G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346231G>T , CM000674.2:g.76346231G>T GRCh38
NC_000012.11:g.76740011G>T , CM000674.1:g.76740011G>T GRCh37
NC_000012.10:g.75264142G>T NCBI36
NG_016357.1:g.7212C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.1754C>A MANE Select ENSP00000497413.1:p.Thr585Asn
ENST00000393262.3:c.1754C>A ENSP00000376946.3:p.Thr585Asn
NM_024685.3:c.1754C>A NP_078961.3:p.Thr585Asn
NM_024685.4:c.1754C>A MANE Select NP_078961.3:p.Thr585Asn
Search 100 bp 5'
Search 100 bp 3'