Canonical Allele Identifier: CA411879462

Gene: UPK3A

Linked Data

• gnomAD v4: 22-45293282-G-A
• MyVariant Identifiers: chr22:g.45689163G>A (hg19) ; chr22:g.45293282G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293282G>A , CM000684.2:g.45293282G>A	GRCh38
NC_000022.10:g.45689163G>A , CM000684.1:g.45689163G>A	GRCh37
NC_000022.9:g.44067827G>A	NCBI36
NG_016203.1:g.13296G>A
NG_016203.2:g.13296G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.673G>A MANE Select	ENSP00000216211.4:p.Gly225Ser
ENST00000216211.8:c.673G>A	ENSP00000216211.4:p.Gly225Ser
ENST00000396082.2:c.310G>A	ENSP00000379391.2:p.Gly104Ser
NM_001167574.1:c.310G>A	NP_001161046.1:p.Gly104Ser
NM_006953.3:c.673G>A	NP_008884.1:p.Gly225Ser
XM_011530364.1:c.679G>A	XP_011528666.1:p.Gly227Ser
XM_011530365.1:c.316G>A	XP_011528667.1:p.Gly106Ser
NM_006953.4:c.673G>A MANE Select	NP_008884.1:p.Gly225Ser
NM_001167574.2:c.310G>A	NP_001161046.1:p.Gly104Ser