Canonical Allele Identifier: CA325067007

Gene: UPK3A

Linked Data

• dbSNP Id: rs950371584
• gnomAD v3: 22-45293124-G-A
• gnomAD v4: 22-45293124-G-A
• MyVariant Identifiers: chr22:g.45689005G>A (hg19) ; chr22:g.45293124G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293124G>A , CM000684.2:g.45293124G>A	GRCh38
NC_000022.10:g.45689005G>A , CM000684.1:g.45689005G>A	GRCh37
NC_000022.9:g.44067669G>A	NCBI36
NG_016203.1:g.13138G>A
NG_016203.2:g.13138G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000216211.9:c.572-57G>A MANE Select	ENSP00000216211.4:n.572-57G>A
ENST00000216211.8:c.572-57G>A	ENSP00000216211.4:n.572-57G>A
ENST00000396082.2:c.209-57G>A	ENSP00000379391.2:n.209-57G>A
NM_001167574.1:c.209-57G>A	NP_001161046.1:n.209-57G>A
NM_006953.3:c.572-57G>A	NP_008884.1:n.572-57G>A
XM_011530364.1:c.578-57G>A	XP_011528666.1:n.578-57G>A
XM_011530365.1:c.215-57G>A	XP_011528667.1:n.215-57G>A
NM_006953.4:c.572-57G>A MANE Select	NP_008884.1:n.572-57G>A
NM_001167574.2:c.209-57G>A	NP_001161046.1:n.209-57G>A