Canonical Allele Identifier: CA385809759
Gene: BBS10 HGNC NCBI

Linked Data

gnomAD v4: 12-76346162-A-T
MyVariant Identifiers: chr12:g.76739942A>T (hg19) chr12:g.76346162A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346162A>T , CM000674.2:g.76346162A>T GRCh38
NC_000012.11:g.76739942A>T , CM000674.1:g.76739942A>T GRCh37
NC_000012.10:g.75264073A>T NCBI36
NG_016357.1:g.7281T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1823T>A MANE Select ENSP00000497413.1:p.Ile608Asn
ENST00000393262.3:c.1823T>A ENSP00000376946.3:p.Ile608Asn
NM_024685.3:c.1823T>A NP_078961.3:p.Ile608Asn
NM_024685.4:c.1823T>A MANE Select NP_078961.3:p.Ile608Asn
Search 100 bp 5'
Search 100 bp 3'