Canonical Allele Identifier: CA411879481

Gene: UPK3A

Linked Data

• dbSNP Id: rs2084174295
• gnomAD v4: 22-45293289-C-T
• MyVariant Identifiers: chr22:g.45689170C>T (hg19) ; chr22:g.45293289C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293289C>T , CM000684.2:g.45293289C>T	GRCh38
NC_000022.10:g.45689170C>T , CM000684.1:g.45689170C>T	GRCh37
NC_000022.9:g.44067834C>T	NCBI36
NG_016203.1:g.13303C>T
NG_016203.2:g.13303C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.680C>T MANE Select	ENSP00000216211.4:p.Ala227Val
ENST00000216211.8:c.680C>T	ENSP00000216211.4:p.Ala227Val
ENST00000396082.2:c.317C>T	ENSP00000379391.2:p.Ala106Val
NM_001167574.1:c.317C>T	NP_001161046.1:p.Ala106Val
NM_006953.3:c.680C>T	NP_008884.1:p.Ala227Val
XM_011530364.1:c.686C>T	XP_011528666.1:p.Ala229Val
XM_011530365.1:c.323C>T	XP_011528667.1:p.Ala108Val
NM_006953.4:c.680C>T MANE Select	NP_008884.1:p.Ala227Val
NM_001167574.2:c.317C>T	NP_001161046.1:p.Ala106Val