Canonical Allele Identifier: CA10284504

Gene: UPK3A

Linked Data

• dbSNP Id: rs745526010
• ExAC: 22:45689177 C / A
• gnomAD v2: 22-45689177-C-A
• gnomAD v4: 22-45293296-C-A
• MyVariant Identifiers: chr22:g.45689177C>A (hg19) ; chr22:g.45293296C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293296C>A , CM000684.2:g.45293296C>A	GRCh38
NC_000022.10:g.45689177C>A , CM000684.1:g.45689177C>A	GRCh37
NC_000022.9:g.44067841C>A	NCBI36
NG_016203.1:g.13310C>A
NG_016203.2:g.13310C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.687C>A MANE Select	ENSP00000216211.4:p.Ala229=
ENST00000216211.8:c.687C>A	ENSP00000216211.4:p.Ala229=
ENST00000396082.2:c.324C>A	ENSP00000379391.2:p.Ala108=
NM_001167574.1:c.324C>A	NP_001161046.1:p.Ala108=
NM_006953.3:c.687C>A	NP_008884.1:p.Ala229=
XM_011530364.1:c.693C>A	XP_011528666.1:p.Ala231=
XM_011530365.1:c.330C>A	XP_011528667.1:p.Ala110=
NM_006953.4:c.687C>A MANE Select	NP_008884.1:p.Ala229=
NM_001167574.2:c.324C>A	NP_001161046.1:p.Ala108=