Canonical Allele Identifier: CA2577748619

Gene: UPK3A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293161C>A , CM000684.2:g.45293161C>A	GRCh38
NC_000022.10:g.45689042C>A , CM000684.1:g.45689042C>A	GRCh37
NC_000022.9:g.44067706C>A	NCBI36
NG_016203.1:g.13175C>A
NG_016203.2:g.13175C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.572-20C>A MANE Select	ENSP00000216211.4:n.572-20C>A
ENST00000216211.8:c.572-20C>A	ENSP00000216211.4:n.572-20C>A
ENST00000396082.2:c.209-20C>A	ENSP00000379391.2:n.209-20C>A
NM_001167574.1:c.209-20C>A	NP_001161046.1:n.209-20C>A
NM_006953.3:c.572-20C>A	NP_008884.1:n.572-20C>A
XM_011530364.1:c.578-20C>A	XP_011528666.1:n.578-20C>A
XM_011530365.1:c.215-20C>A	XP_011528667.1:n.215-20C>A
NM_006953.4:c.572-20C>A MANE Select	NP_008884.1:n.572-20C>A
NM_001167574.2:c.209-20C>A	NP_001161046.1:n.209-20C>A