Canonical Allele Identifier: CA411879458

Gene: UPK3A

Linked Data

• MyVariant Identifiers: chr22:g.45689160G>T (hg19) ; chr22:g.45293279G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293279G>T , CM000684.2:g.45293279G>T	GRCh38
NC_000022.10:g.45689160G>T , CM000684.1:g.45689160G>T	GRCh37
NC_000022.9:g.44067824G>T	NCBI36
NG_016203.1:g.13293G>T
NG_016203.2:g.13293G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.670G>T MANE Select	ENSP00000216211.4:p.Val224Leu
ENST00000216211.8:c.670G>T	ENSP00000216211.4:p.Val224Leu
ENST00000396082.2:c.307G>T	ENSP00000379391.2:p.Val103Leu
NM_001167574.1:c.307G>T	NP_001161046.1:p.Val103Leu
NM_006953.3:c.670G>T	NP_008884.1:p.Val224Leu
XM_011530364.1:c.676G>T	XP_011528666.1:p.Val226Leu
XM_011530365.1:c.313G>T	XP_011528667.1:p.Val105Leu
NM_006953.4:c.670G>T MANE Select	NP_008884.1:p.Val224Leu
NM_001167574.2:c.307G>T	NP_001161046.1:p.Val103Leu