Canonical Allele Identifier: CA411879414

Gene: UPK3A

Linked Data

• MyVariant Identifiers: chr22:g.45689148T>G (hg19) ; chr22:g.45293267T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293267T>G , CM000684.2:g.45293267T>G	GRCh38
NC_000022.10:g.45689148T>G , CM000684.1:g.45689148T>G	GRCh37
NC_000022.9:g.44067812T>G	NCBI36
NG_016203.1:g.13281T>G
NG_016203.2:g.13281T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.658T>G MANE Select	ENSP00000216211.4:p.Phe220Val
ENST00000216211.8:c.658T>G	ENSP00000216211.4:p.Phe220Val
ENST00000396082.2:c.295T>G	ENSP00000379391.2:p.Phe99Val
NM_001167574.1:c.295T>G	NP_001161046.1:p.Phe99Val
NM_006953.3:c.658T>G	NP_008884.1:p.Phe220Val
XM_011530364.1:c.664T>G	XP_011528666.1:p.Phe222Val
XM_011530365.1:c.301T>G	XP_011528667.1:p.Phe101Val
NM_006953.4:c.658T>G MANE Select	NP_008884.1:p.Phe220Val
NM_001167574.2:c.295T>G	NP_001161046.1:p.Phe99Val