Canonical Allele Identifier: CA2819158228
Gene: UPK3A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45293517T>A , CM000684.2:g.45293517T>A GRCh38
NC_000022.10:g.45689398T>A , CM000684.1:g.45689398T>A GRCh37
NC_000022.9:g.44068062T>A NCBI36
NG_016203.1:g.13531T>A
NG_016203.2:g.13531T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216211.9:c.704+204T>A MANE Select ENSP00000216211.4:n.704+204T>A
ENST00000216211.8:c.704+204T>A ENSP00000216211.4:n.704+204T>A
ENST00000396082.2:c.341+204T>A ENSP00000379391.2:n.341+204T>A
NM_001167574.1:c.341+204T>A NP_001161046.1:n.341+204T>A
NM_006953.3:c.704+204T>A NP_008884.1:n.704+204T>A
XM_011530364.1:c.710+204T>A XP_011528666.1:n.710+204T>A
XM_011530365.1:c.347+204T>A XP_011528667.1:n.347+204T>A
NM_006953.4:c.704+204T>A MANE Select NP_008884.1:n.704+204T>A
NM_001167574.2:c.341+204T>A NP_001161046.1:n.341+204T>A
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