Canonical Allele Identifier: CA411879555

Gene: UPK3A

Linked Data

• MyVariant Identifiers: chr22:g.45689189C>A (hg19) ; chr22:g.45293308C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293308C>A , CM000684.2:g.45293308C>A	GRCh38
NC_000022.10:g.45689189C>A , CM000684.1:g.45689189C>A	GRCh37
NC_000022.9:g.44067853C>A	NCBI36
NG_016203.1:g.13322C>A
NG_016203.2:g.13322C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.699C>A MANE Select	ENSP00000216211.4:p.Ser233Arg
ENST00000216211.8:c.699C>A	ENSP00000216211.4:p.Ser233Arg
ENST00000396082.2:c.336C>A	ENSP00000379391.2:p.Ser112Arg
NM_001167574.1:c.336C>A	NP_001161046.1:p.Ser112Arg
NM_006953.3:c.699C>A	NP_008884.1:p.Ser233Arg
XM_011530364.1:c.705C>A	XP_011528666.1:p.Ser235Arg
XM_011530365.1:c.342C>A	XP_011528667.1:p.Ser114Arg
NM_006953.4:c.699C>A MANE Select	NP_008884.1:p.Ser233Arg
NM_001167574.2:c.336C>A	NP_001161046.1:p.Ser112Arg