Canonical Allele Identifier: CA411879459

Gene: UPK3A

Linked Data

• dbSNP Id: rs1360838885
• COSMIC: COSM4943383
• MyVariant Identifiers: chr22:g.45689161T>A (hg19) ; chr22:g.45293280T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293280T>A , CM000684.2:g.45293280T>A	GRCh38
NC_000022.10:g.45689161T>A , CM000684.1:g.45689161T>A	GRCh37
NC_000022.9:g.44067825T>A	NCBI36
NG_016203.1:g.13294T>A
NG_016203.2:g.13294T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.671T>A MANE Select	ENSP00000216211.4:p.Val224Glu
ENST00000216211.8:c.671T>A	ENSP00000216211.4:p.Val224Glu
ENST00000396082.2:c.308T>A	ENSP00000379391.2:p.Val103Glu
NM_001167574.1:c.308T>A	NP_001161046.1:p.Val103Glu
NM_006953.3:c.671T>A	NP_008884.1:p.Val224Glu
XM_011530364.1:c.677T>A	XP_011528666.1:p.Val226Glu
XM_011530365.1:c.314T>A	XP_011528667.1:p.Val105Glu
NM_006953.4:c.671T>A MANE Select	NP_008884.1:p.Val224Glu
NM_001167574.2:c.308T>A	NP_001161046.1:p.Val103Glu