Canonical Allele Identifier: CA411879416

Gene: UPK3A

Linked Data

• gnomAD v4: 22-45293268-T-A
• MyVariant Identifiers: chr22:g.45689149T>A (hg19) ; chr22:g.45293268T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293268T>A , CM000684.2:g.45293268T>A	GRCh38
NC_000022.10:g.45689149T>A , CM000684.1:g.45689149T>A	GRCh37
NC_000022.9:g.44067813T>A	NCBI36
NG_016203.1:g.13282T>A
NG_016203.2:g.13282T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.659T>A MANE Select	ENSP00000216211.4:p.Phe220Tyr
ENST00000216211.8:c.659T>A	ENSP00000216211.4:p.Phe220Tyr
ENST00000396082.2:c.296T>A	ENSP00000379391.2:p.Phe99Tyr
NM_001167574.1:c.296T>A	NP_001161046.1:p.Phe99Tyr
NM_006953.3:c.659T>A	NP_008884.1:p.Phe220Tyr
XM_011530364.1:c.665T>A	XP_011528666.1:p.Phe222Tyr
XM_011530365.1:c.302T>A	XP_011528667.1:p.Phe101Tyr
NM_006953.4:c.659T>A MANE Select	NP_008884.1:p.Phe220Tyr
NM_001167574.2:c.296T>A	NP_001161046.1:p.Phe99Tyr