Canonical Allele Identifier: CA385809698
Gene: BBS10 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.76739934G>T (hg19) chr12:g.76346154G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346154G>T , CM000674.2:g.76346154G>T GRCh38
NC_000012.11:g.76739934G>T , CM000674.1:g.76739934G>T GRCh37
NC_000012.10:g.75264065G>T NCBI36
NG_016357.1:g.7289C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1831C>A MANE Select ENSP00000497413.1:p.His611Asn
ENST00000393262.3:c.1831C>A ENSP00000376946.3:p.His611Asn
NM_024685.3:c.1831C>A NP_078961.3:p.His611Asn
NM_024685.4:c.1831C>A MANE Select NP_078961.3:p.His611Asn
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