Canonical Allele Identifier: CA2657267251

Gene: UPK3A

Linked Data

• gnomAD v4: 22-45293319-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293319T>A , CM000684.2:g.45293319T>A	GRCh38
NC_000022.10:g.45689200T>A , CM000684.1:g.45689200T>A	GRCh37
NC_000022.9:g.44067864T>A	NCBI36
NG_016203.1:g.13333T>A
NG_016203.2:g.13333T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.704+6T>A MANE Select	ENSP00000216211.4:n.704+6T>A
ENST00000216211.8:c.704+6T>A	ENSP00000216211.4:n.704+6T>A
ENST00000396082.2:c.341+6T>A	ENSP00000379391.2:n.341+6T>A
NM_001167574.1:c.341+6T>A	NP_001161046.1:n.341+6T>A
NM_006953.3:c.704+6T>A	NP_008884.1:n.704+6T>A
XM_011530364.1:c.710+6T>A	XP_011528666.1:n.710+6T>A
XM_011530365.1:c.347+6T>A	XP_011528667.1:n.347+6T>A
NM_006953.4:c.704+6T>A MANE Select	NP_008884.1:n.704+6T>A
NM_001167574.2:c.341+6T>A	NP_001161046.1:n.341+6T>A