Canonical Allele Identifier: CA411879484

Gene: UPK3A

Linked Data

• dbSNP Id: rs1422862749
• gnomAD v3: 22-45293291-G-T
• gnomAD v4: 22-45293291-G-T
• MyVariant Identifiers: chr22:g.45689172G>T (hg19) ; chr22:g.45293291G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293291G>T , CM000684.2:g.45293291G>T	GRCh38
NC_000022.10:g.45689172G>T , CM000684.1:g.45689172G>T	GRCh37
NC_000022.9:g.44067836G>T	NCBI36
NG_016203.1:g.13305G>T
NG_016203.2:g.13305G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.682G>T MANE Select	ENSP00000216211.4:p.Gly228Cys
ENST00000216211.8:c.682G>T	ENSP00000216211.4:p.Gly228Cys
ENST00000396082.2:c.319G>T	ENSP00000379391.2:p.Gly107Cys
NM_001167574.1:c.319G>T	NP_001161046.1:p.Gly107Cys
NM_006953.3:c.682G>T	NP_008884.1:p.Gly228Cys
XM_011530364.1:c.688G>T	XP_011528666.1:p.Gly230Cys
XM_011530365.1:c.325G>T	XP_011528667.1:p.Gly109Cys
NM_006953.4:c.682G>T MANE Select	NP_008884.1:p.Gly228Cys
NM_001167574.2:c.319G>T	NP_001161046.1:p.Gly107Cys