Canonical Allele Identifier: CA514882719

Gene: UPK3A

Linked Data

• MyVariant Identifiers: chr22:g.45689123C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293242C>A , CM000684.2:g.45293242C>A	GRCh38
NC_000022.10:g.45689123C>A , CM000684.1:g.45689123C>A	GRCh37
NC_000022.9:g.44067787C>A	NCBI36
NG_016203.1:g.13256C>A
NG_016203.2:g.13256C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.633C>A MANE Select	ENSP00000216211.4:p.Ile211=
ENST00000216211.8:c.633C>A	ENSP00000216211.4:p.Ile211=
ENST00000396082.2:c.270C>A	ENSP00000379391.2:p.Ile90=
NM_001167574.1:c.270C>A	NP_001161046.1:p.Ile90=
NM_006953.3:c.633C>A	NP_008884.1:p.Ile211=
XM_011530364.1:c.639C>A	XP_011528666.1:p.Ile213=
XM_011530365.1:c.276C>A	XP_011528667.1:p.Ile92=
NM_006953.4:c.633C>A MANE Select	NP_008884.1:p.Ile211=
NM_001167574.2:c.270C>A	NP_001161046.1:p.Ile90=