Canonical Allele Identifier: CA411879373

Gene: UPK3A

Linked Data

• MyVariant Identifiers: chr22:g.45689137G>T (hg19) ; chr22:g.45293256G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293256G>T , CM000684.2:g.45293256G>T	GRCh38
NC_000022.10:g.45689137G>T , CM000684.1:g.45689137G>T	GRCh37
NC_000022.9:g.44067801G>T	NCBI36
NG_016203.1:g.13270G>T
NG_016203.2:g.13270G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.647G>T MANE Select	ENSP00000216211.4:p.Gly216Val
ENST00000216211.8:c.647G>T	ENSP00000216211.4:p.Gly216Val
ENST00000396082.2:c.284G>T	ENSP00000379391.2:p.Gly95Val
NM_001167574.1:c.284G>T	NP_001161046.1:p.Gly95Val
NM_006953.3:c.647G>T	NP_008884.1:p.Gly216Val
XM_011530364.1:c.653G>T	XP_011528666.1:p.Gly218Val
XM_011530365.1:c.290G>T	XP_011528667.1:p.Gly97Val
NM_006953.4:c.647G>T MANE Select	NP_008884.1:p.Gly216Val
NM_001167574.2:c.284G>T	NP_001161046.1:p.Gly95Val