Canonical Allele Identifier: CA481011626
Gene: BBS10 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.76740817T>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347037T>G , CM000674.2:g.76347037T>G GRCh38
NC_000012.11:g.76740817T>G , CM000674.1:g.76740817T>G GRCh37
NC_000012.10:g.75264948T>G NCBI36
NG_016357.1:g.6406A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.948A>C MANE Select ENSP00000497413.1:p.Pro316=
ENST00000393262.3:c.948A>C ENSP00000376946.3:p.Pro316=
NM_024685.3:c.948A>C NP_078961.3:p.Pro316=
NM_024685.4:c.948A>C MANE Select NP_078961.3:p.Pro316=
Search 100 bp 5'
Search 100 bp 3'