Canonical Allele Identifier: CA411879506

Gene: UPK3A

Linked Data

• MyVariant Identifiers: chr22:g.45689179T>A (hg19) ; chr22:g.45293298T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293298T>A , CM000684.2:g.45293298T>A	GRCh38
NC_000022.10:g.45689179T>A , CM000684.1:g.45689179T>A	GRCh37
NC_000022.9:g.44067843T>A	NCBI36
NG_016203.1:g.13312T>A
NG_016203.2:g.13312T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.689T>A MANE Select	ENSP00000216211.4:p.Ile230Asn
ENST00000216211.8:c.689T>A	ENSP00000216211.4:p.Ile230Asn
ENST00000396082.2:c.326T>A	ENSP00000379391.2:p.Ile109Asn
NM_001167574.1:c.326T>A	NP_001161046.1:p.Ile109Asn
NM_006953.3:c.689T>A	NP_008884.1:p.Ile230Asn
XM_011530364.1:c.695T>A	XP_011528666.1:p.Ile232Asn
XM_011530365.1:c.332T>A	XP_011528667.1:p.Ile111Asn
NM_006953.4:c.689T>A MANE Select	NP_008884.1:p.Ile230Asn
NM_001167574.2:c.326T>A	NP_001161046.1:p.Ile109Asn