Canonical Allele Identifier: CA385813545
Gene: BBS10 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.76740830C>A (hg19) chr12:g.76347050C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347050C>A , CM000674.2:g.76347050C>A GRCh38
NC_000012.11:g.76740830C>A , CM000674.1:g.76740830C>A GRCh37
NC_000012.10:g.75264961C>A NCBI36
NG_016357.1:g.6393G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.935G>T MANE Select ENSP00000497413.1:p.Ser312Ile
ENST00000393262.3:c.935G>T ENSP00000376946.3:p.Ser312Ile
NM_024685.3:c.935G>T NP_078961.3:p.Ser312Ile
NM_024685.4:c.935G>T MANE Select NP_078961.3:p.Ser312Ile
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Search 100 bp 3'