Canonical Allele Identifier: CA2657267228

Gene: UPK3A

Linked Data

• gnomAD v4: 22-45293134-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293134A>G , CM000684.2:g.45293134A>G	GRCh38
NC_000022.10:g.45689015A>G , CM000684.1:g.45689015A>G	GRCh37
NC_000022.9:g.44067679A>G	NCBI36
NG_016203.1:g.13148A>G
NG_016203.2:g.13148A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216211.9:c.572-47A>G MANE Select	ENSP00000216211.4:n.572-47A>G
ENST00000216211.8:c.572-47A>G	ENSP00000216211.4:n.572-47A>G
ENST00000396082.2:c.209-47A>G	ENSP00000379391.2:n.209-47A>G
NM_001167574.1:c.209-47A>G	NP_001161046.1:n.209-47A>G
NM_006953.3:c.572-47A>G	NP_008884.1:n.572-47A>G
XM_011530364.1:c.578-47A>G	XP_011528666.1:n.578-47A>G
XM_011530365.1:c.215-47A>G	XP_011528667.1:n.215-47A>G
NM_006953.4:c.572-47A>G MANE Select	NP_008884.1:n.572-47A>G
NM_001167574.2:c.209-47A>G	NP_001161046.1:n.209-47A>G