Canonical Allele Identifier: CA411879492

Gene: UPK3A

Linked Data

• dbSNP Id: rs1312039611
• gnomAD v2: 22-45689176-C-A
• MyVariant Identifiers: chr22:g.45689176C>A (hg19) ; chr22:g.45293295C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293295C>A , CM000684.2:g.45293295C>A	GRCh38
NC_000022.10:g.45689176C>A , CM000684.1:g.45689176C>A	GRCh37
NC_000022.9:g.44067840C>A	NCBI36
NG_016203.1:g.13309C>A
NG_016203.2:g.13309C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.686C>A MANE Select	ENSP00000216211.4:p.Ala229Asp
ENST00000216211.8:c.686C>A	ENSP00000216211.4:p.Ala229Asp
ENST00000396082.2:c.323C>A	ENSP00000379391.2:p.Ala108Asp
NM_001167574.1:c.323C>A	NP_001161046.1:p.Ala108Asp
NM_006953.3:c.686C>A	NP_008884.1:p.Ala229Asp
XM_011530364.1:c.692C>A	XP_011528666.1:p.Ala231Asp
XM_011530365.1:c.329C>A	XP_011528667.1:p.Ala110Asp
NM_006953.4:c.686C>A MANE Select	NP_008884.1:p.Ala229Asp
NM_001167574.2:c.323C>A	NP_001161046.1:p.Ala108Asp