Canonical Allele Identifier: CA411879288

Gene: UPK3A

Linked Data

• COSMIC: COSM5057879
• MyVariant Identifiers: chr22:g.45689125C>A (hg19) ; chr22:g.45293244C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293244C>A , CM000684.2:g.45293244C>A	GRCh38
NC_000022.10:g.45689125C>A , CM000684.1:g.45689125C>A	GRCh37
NC_000022.9:g.44067789C>A	NCBI36
NG_016203.1:g.13258C>A
NG_016203.2:g.13258C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.635C>A MANE Select	ENSP00000216211.4:p.Thr212Asn
ENST00000216211.8:c.635C>A	ENSP00000216211.4:p.Thr212Asn
ENST00000396082.2:c.272C>A	ENSP00000379391.2:p.Thr91Asn
NM_001167574.1:c.272C>A	NP_001161046.1:p.Thr91Asn
NM_006953.3:c.635C>A	NP_008884.1:p.Thr212Asn
XM_011530364.1:c.641C>A	XP_011528666.1:p.Thr214Asn
XM_011530365.1:c.278C>A	XP_011528667.1:p.Thr93Asn
NM_006953.4:c.635C>A MANE Select	NP_008884.1:p.Thr212Asn
NM_001167574.2:c.272C>A	NP_001161046.1:p.Thr91Asn