Canonical Allele Identifier: CA385809964
Gene: BBS10 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.76739991A>T (hg19) chr12:g.76346211A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346211A>T , CM000674.2:g.76346211A>T GRCh38
NC_000012.11:g.76739991A>T , CM000674.1:g.76739991A>T GRCh37
NC_000012.10:g.75264122A>T NCBI36
NG_016357.1:g.7232T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1774T>A MANE Select ENSP00000497413.1:p.Ser592Thr
ENST00000393262.3:c.1774T>A ENSP00000376946.3:p.Ser592Thr
NM_024685.3:c.1774T>A NP_078961.3:p.Ser592Thr
NM_024685.4:c.1774T>A MANE Select NP_078961.3:p.Ser592Thr
Search 100 bp 5'
Search 100 bp 3'