Canonical Allele Identifier: CA2580688526
Gene: UPK3A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45293143C>G , CM000684.2:g.45293143C>G GRCh38
NC_000022.10:g.45689024C>G , CM000684.1:g.45689024C>G GRCh37
NC_000022.9:g.44067688C>G NCBI36
NG_016203.1:g.13157C>G
NG_016203.2:g.13157C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000216211.9:c.572-38C>G MANE Select ENSP00000216211.4:n.572-38C>G
ENST00000216211.8:c.572-38C>G ENSP00000216211.4:n.572-38C>G
ENST00000396082.2:c.209-38C>G ENSP00000379391.2:n.209-38C>G
NM_001167574.1:c.209-38C>G NP_001161046.1:n.209-38C>G
NM_006953.3:c.572-38C>G NP_008884.1:n.572-38C>G
XM_011530364.1:c.578-38C>G XP_011528666.1:n.578-38C>G
XM_011530365.1:c.215-38C>G XP_011528667.1:n.215-38C>G
NM_006953.4:c.572-38C>G MANE Select NP_008884.1:n.572-38C>G
NM_001167574.2:c.209-38C>G NP_001161046.1:n.209-38C>G
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