Canonical Allele Identifier: CA481011072
Gene: BBS10 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.76739830A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346050A>G , CM000674.2:g.76346050A>G GRCh38
NC_000012.11:g.76739830A>G , CM000674.1:g.76739830A>G GRCh37
NC_000012.10:g.75263961A>G NCBI36
NG_016357.1:g.7393T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1935T>C MANE Select ENSP00000497413.1:p.Tyr645=
ENST00000393262.3:c.1935T>C ENSP00000376946.3:p.Tyr645=
NM_024685.3:c.1935T>C NP_078961.3:p.Tyr645=
NM_024685.4:c.1935T>C MANE Select NP_078961.3:p.Tyr645=