Canonical Allele Identifier: CA10284433

Gene: UPK3A

Linked Data

• ClinVar Variation Id: 341981
• ClinVar RCV Id: RCV001691973
• dbSNP Id: rs1135360
• ExAC: 22:45685002 A / G
• gnomAD v2: 22-45685002-A-G
• gnomAD v3: 22-45289121-A-G
• gnomAD v4: 22-45289121-A-G
• MyVariant Identifiers: chr22:g.45685002A>G (hg19) ; chr22:g.45289121A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45289121A>G , CM000684.2:g.45289121A>G	GRCh38
NC_000022.10:g.45685002A>G , CM000684.1:g.45685002A>G	GRCh37
NC_000022.9:g.44063666A>G	NCBI36
NG_016203.1:g.9135A>G
NG_016203.2:g.9135A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216211.9:c.549A>G MANE Select	ENSP00000216211.4:p.Ser183=
ENST00000216211.8:c.549A>G	ENSP00000216211.4:p.Ser183=
ENST00000396082.2:c.208+3025A>G	ENSP00000379391.2:n.208+3025A>G
NM_001167574.1:c.208+3025A>G	NP_001161046.1:n.208+3025A>G
NM_006953.3:c.549A>G	NP_008884.1:p.Ser183=
XM_011530364.1:c.555A>G	XP_011528666.1:p.Ser185=
XM_011530365.1:c.214+3025A>G	XP_011528667.1:n.214+3025A>G
NM_006953.4:c.549A>G MANE Select	NP_008884.1:p.Ser183=
NM_001167574.2:c.208+3025A>G	NP_001161046.1:n.208+3025A>G