Canonical Allele Identifier: CA411879473

Gene: UPK3A

Linked Data

• MyVariant Identifiers: chr22:g.45689167T>G (hg19) ; chr22:g.45293286T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293286T>G , CM000684.2:g.45293286T>G	GRCh38
NC_000022.10:g.45689167T>G , CM000684.1:g.45689167T>G	GRCh37
NC_000022.9:g.44067831T>G	NCBI36
NG_016203.1:g.13300T>G
NG_016203.2:g.13300T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.677T>G MANE Select	ENSP00000216211.4:p.Phe226Cys
ENST00000216211.8:c.677T>G	ENSP00000216211.4:p.Phe226Cys
ENST00000396082.2:c.314T>G	ENSP00000379391.2:p.Phe105Cys
NM_001167574.1:c.314T>G	NP_001161046.1:p.Phe105Cys
NM_006953.3:c.677T>G	NP_008884.1:p.Phe226Cys
XM_011530364.1:c.683T>G	XP_011528666.1:p.Phe228Cys
XM_011530365.1:c.320T>G	XP_011528667.1:p.Phe107Cys
NM_006953.4:c.677T>G MANE Select	NP_008884.1:p.Phe226Cys
NM_001167574.2:c.314T>G	NP_001161046.1:p.Phe105Cys