Canonical Allele Identifier: CA385808288
Gene: BBS10 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.76739656C>T (hg19) chr12:g.76345876C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345876C>T , CM000674.2:g.76345876C>T GRCh38
NC_000012.11:g.76739656C>T , CM000674.1:g.76739656C>T GRCh37
NC_000012.10:g.75263787C>T NCBI36
NG_016357.1:g.7567G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2109G>A MANE Select ENSP00000497413.1:p.Met703Ile
ENST00000393262.3:c.2109G>A ENSP00000376946.3:p.Met703Ile
NM_024685.3:c.2109G>A NP_078961.3:p.Met703Ile
NM_024685.4:c.2109G>A MANE Select NP_078961.3:p.Met703Ile
Search 100 bp 5'
Search 100 bp 3'