Canonical Allele Identifier: CA2657267226
Gene: UPK3A HGNC NCBI

Linked Data

gnomAD v4: 22-45293133-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45293133G>A , CM000684.2:g.45293133G>A GRCh38
NC_000022.10:g.45689014G>A , CM000684.1:g.45689014G>A GRCh37
NC_000022.9:g.44067678G>A NCBI36
NG_016203.1:g.13147G>A
NG_016203.2:g.13147G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000216211.9:c.572-48G>A MANE Select ENSP00000216211.4:n.572-48G>A
ENST00000216211.8:c.572-48G>A ENSP00000216211.4:n.572-48G>A
ENST00000396082.2:c.209-48G>A ENSP00000379391.2:n.209-48G>A
NM_001167574.1:c.209-48G>A NP_001161046.1:n.209-48G>A
NM_006953.3:c.572-48G>A NP_008884.1:n.572-48G>A
XM_011530364.1:c.578-48G>A XP_011528666.1:n.578-48G>A
XM_011530365.1:c.215-48G>A XP_011528667.1:n.215-48G>A
NM_006953.4:c.572-48G>A MANE Select NP_008884.1:n.572-48G>A
NM_001167574.2:c.209-48G>A NP_001161046.1:n.209-48G>A
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