Canonical Allele Identifier: CA10284341

Gene: UPK3A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45287235A>T , CM000684.2:g.45287235A>T	GRCh38
NC_000022.10:g.45683116A>T , CM000684.1:g.45683116A>T	GRCh37
NC_000022.9:g.44061780A>T	NCBI36
NG_016203.1:g.7249A>T
NG_016203.2:g.7249A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006953.4:c.272A>T MANE Select	NP_008884.1:p.Gln91Leu
ENST00000216211.9:c.272A>T MANE Select	ENSP00000216211.4:p.Gln91Leu
NM_001167574.1:c.208+1139A>T	NP_001161046.1:n.208+1139A>T
NM_001167574.2:c.208+1139A>T	NP_001161046.1:n.208+1139A>T
NM_006953.3:c.272A>T	NP_008884.1:p.Gln91Leu
ENST00000216211.8:c.272A>T	ENSP00000216211.4:p.Gln91Leu
ENST00000396082.2:c.208+1139A>T	ENSP00000379391.2:n.208+1139A>T
XM_011530364.1:c.278A>T	XP_011528666.1:p.Gln93Leu
XM_011530365.1:c.214+1139A>T	XP_011528667.1:n.214+1139A>T