Canonical Allele Identifier: CA411878225

Gene: UPK3A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45287322G>A , CM000684.2:g.45287322G>A	GRCh38
NC_000022.10:g.45683203G>A , CM000684.1:g.45683203G>A	GRCh37
NC_000022.9:g.44061867G>A	NCBI36
NG_016203.1:g.7336G>A
NG_016203.2:g.7336G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006953.4:c.359G>A MANE Select	NP_008884.1:p.Gly120Glu
ENST00000216211.9:c.359G>A MANE Select	ENSP00000216211.4:p.Gly120Glu
NM_001167574.1:c.208+1226G>A	NP_001161046.1:n.208+1226G>A
NM_001167574.2:c.208+1226G>A	NP_001161046.1:n.208+1226G>A
NM_006953.3:c.359G>A	NP_008884.1:p.Gly120Glu
ENST00000216211.8:c.359G>A	ENSP00000216211.4:p.Gly120Glu
ENST00000396082.2:c.208+1226G>A	ENSP00000379391.2:n.208+1226G>A
XM_011530364.1:c.365G>A	XP_011528666.1:p.Gly122Glu
XM_011530365.1:c.214+1226G>A	XP_011528667.1:n.214+1226G>A