Canonical Allele Identifier: CA411879430

Gene: UPK3A

Linked Data

• MyVariant Identifiers: chr22:g.45689152T>A (hg19) ; chr22:g.45293271T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293271T>A , CM000684.2:g.45293271T>A	GRCh38
NC_000022.10:g.45689152T>A , CM000684.1:g.45689152T>A	GRCh37
NC_000022.9:g.44067816T>A	NCBI36
NG_016203.1:g.13285T>A
NG_016203.2:g.13285T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.662T>A MANE Select	ENSP00000216211.4:p.Phe221Tyr
ENST00000216211.8:c.662T>A	ENSP00000216211.4:p.Phe221Tyr
ENST00000396082.2:c.299T>A	ENSP00000379391.2:p.Phe100Tyr
NM_001167574.1:c.299T>A	NP_001161046.1:p.Phe100Tyr
NM_006953.3:c.662T>A	NP_008884.1:p.Phe221Tyr
XM_011530364.1:c.668T>A	XP_011528666.1:p.Phe223Tyr
XM_011530365.1:c.305T>A	XP_011528667.1:p.Phe102Tyr
NM_006953.4:c.662T>A MANE Select	NP_008884.1:p.Phe221Tyr
NM_001167574.2:c.299T>A	NP_001161046.1:p.Phe100Tyr