Canonical Allele Identifier: CA2047353157
Gene: BBS10 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346090A= , CM000674.2:g.76346090A= GRCh38
NC_000012.11:g.76739870A= , CM000674.1:g.76739870A= GRCh37
NC_000012.10:g.75264001A= NCBI36
NG_016357.1:g.7353T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1895T= MANE Select ENSP00000497413.1:p.Ile632=
ENST00000393262.3:c.1895T= ENSP00000376946.3:p.Ile632=
NM_024685.3:c.1895T= NP_078961.3:p.Ile632=
NM_024685.4:c.1895T= MANE Select NP_078961.3:p.Ile632=
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