Canonical Allele Identifier: CA411879472

Gene: UPK3A

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.677T>C MANE Select	ENSP00000216211.4:p.Phe226Ser
ENST00000216211.8:c.677T>C	ENSP00000216211.4:p.Phe226Ser
ENST00000396082.2:c.314T>C	ENSP00000379391.2:p.Phe105Ser
NM_001167574.1:c.314T>C	NP_001161046.1:p.Phe105Ser
NM_006953.3:c.677T>C	NP_008884.1:p.Phe226Ser
XM_011530364.1:c.683T>C	XP_011528666.1:p.Phe228Ser
XM_011530365.1:c.320T>C	XP_011528667.1:p.Phe107Ser
NM_006953.4:c.677T>C MANE Select	NP_008884.1:p.Phe226Ser
NM_001167574.2:c.314T>C	NP_001161046.1:p.Phe105Ser