Canonical Allele Identifier: CA411879379

Gene: UPK3A

Linked Data

• MyVariant Identifiers: chr22:g.45689139T>A (hg19) ; chr22:g.45293258T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293258T>A , CM000684.2:g.45293258T>A	GRCh38
NC_000022.10:g.45689139T>A , CM000684.1:g.45689139T>A	GRCh37
NC_000022.9:g.44067803T>A	NCBI36
NG_016203.1:g.13272T>A
NG_016203.2:g.13272T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.649T>A MANE Select	ENSP00000216211.4:p.Ser217Thr
ENST00000216211.8:c.649T>A	ENSP00000216211.4:p.Ser217Thr
ENST00000396082.2:c.286T>A	ENSP00000379391.2:p.Ser96Thr
NM_001167574.1:c.286T>A	NP_001161046.1:p.Ser96Thr
NM_006953.3:c.649T>A	NP_008884.1:p.Ser217Thr
XM_011530364.1:c.655T>A	XP_011528666.1:p.Ser219Thr
XM_011530365.1:c.292T>A	XP_011528667.1:p.Ser98Thr
NM_006953.4:c.649T>A MANE Select	NP_008884.1:p.Ser217Thr
NM_001167574.2:c.286T>A	NP_001161046.1:p.Ser96Thr