Canonical Allele Identifier: CA2408185550
Gene: UPK3A HGNC NCBI

Linked Data

dbSNP Id: rs534257833
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45293492G>C , CM000684.2:g.45293492G>C GRCh38
NC_000022.10:g.45689373G>C , CM000684.1:g.45689373G>C GRCh37
NC_000022.9:g.44068037G>C NCBI36
NG_016203.1:g.13506G>C
NG_016203.2:g.13506G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216211.9:c.704+179G>C MANE Select ENSP00000216211.4:n.704+179G>C
ENST00000216211.8:c.704+179G>C ENSP00000216211.4:n.704+179G>C
ENST00000396082.2:c.341+179G>C ENSP00000379391.2:n.341+179G>C
NM_001167574.1:c.341+179G>C NP_001161046.1:n.341+179G>C
NM_006953.3:c.704+179G>C NP_008884.1:n.704+179G>C
XM_011530364.1:c.710+179G>C XP_011528666.1:n.710+179G>C
XM_011530365.1:c.347+179G>C XP_011528667.1:n.347+179G>C
NM_006953.4:c.704+179G>C MANE Select NP_008884.1:n.704+179G>C
NM_001167574.2:c.341+179G>C NP_001161046.1:n.341+179G>C
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