Canonical Allele Identifier: CA481010822
Gene: BBS10 HGNC NCBI

Linked Data

COSMIC: COSM279127
MyVariant Identifiers: chr12:g.76740198G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346418G>A , CM000674.2:g.76346418G>A GRCh38
NC_000012.11:g.76740198G>A , CM000674.1:g.76740198G>A GRCh37
NC_000012.10:g.75264329G>A NCBI36
NG_016357.1:g.7025C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1567C>T MANE Select ENSP00000497413.1:p.Leu523=
ENST00000393262.3:c.1567C>T ENSP00000376946.3:p.Leu523=
NM_024685.3:c.1567C>T NP_078961.3:p.Leu523=
NM_024685.4:c.1567C>T MANE Select NP_078961.3:p.Leu523=
Search 100 bp 5'
Search 100 bp 3'