Canonical Allele Identifier: CA385808261
Gene: BBS10 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.76739643T>G (hg19) chr12:g.76345863T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345863T>G , CM000674.2:g.76345863T>G GRCh38
NC_000012.11:g.76739643T>G , CM000674.1:g.76739643T>G GRCh37
NC_000012.10:g.75263774T>G NCBI36
NG_016357.1:g.7580A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2122A>C MANE Select ENSP00000497413.1:p.Lys708Gln
ENST00000393262.3:c.2122A>C ENSP00000376946.3:p.Lys708Gln
NM_024685.3:c.2122A>C NP_078961.3:p.Lys708Gln
NM_024685.4:c.2122A>C MANE Select NP_078961.3:p.Lys708Gln
Search 100 bp 5'
Search 100 bp 3'