Canonical Allele Identifier: CA2408185547
Gene: UPK3A HGNC NCBI

Linked Data

dbSNP Id: rs2084175949
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45293490G>A , CM000684.2:g.45293490G>A GRCh38
NC_000022.10:g.45689371G>A , CM000684.1:g.45689371G>A GRCh37
NC_000022.9:g.44068035G>A NCBI36
NG_016203.1:g.13504G>A
NG_016203.2:g.13504G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216211.9:c.704+177G>A MANE Select ENSP00000216211.4:n.704+177G>A
ENST00000216211.8:c.704+177G>A ENSP00000216211.4:n.704+177G>A
ENST00000396082.2:c.341+177G>A ENSP00000379391.2:n.341+177G>A
NM_001167574.1:c.341+177G>A NP_001161046.1:n.341+177G>A
NM_006953.3:c.704+177G>A NP_008884.1:n.704+177G>A
XM_011530364.1:c.710+177G>A XP_011528666.1:n.710+177G>A
XM_011530365.1:c.347+177G>A XP_011528667.1:n.347+177G>A
NM_006953.4:c.704+177G>A MANE Select NP_008884.1:n.704+177G>A
NM_001167574.2:c.341+177G>A NP_001161046.1:n.341+177G>A
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