Canonical Allele Identifier: CA358165
Community Standard Title: NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)
Gene: BBS10 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76348214G>A , CM000674.2:g.76348214G>A GRCh38
NC_000012.11:g.76741994G>A , CM000674.1:g.76741994G>A GRCh37
NC_000012.10:g.75266125G>A NCBI36
NG_016357.1:g.5229C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024685.4:c.145C>T MANE Select NP_078961.3:p.Arg49Trp
ENST00000650064.2:c.145C>T MANE Select ENSP00000497413.1:p.Arg49Trp
NM_024685.3:c.145C>T NP_078961.3:p.Arg49Trp
ENST00000393262.3:c.145C>T ENSP00000376946.3:p.Arg49Trp
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