Canonical Allele Identifier: CA411879256

Gene: UPK3A

Linked Data

• gnomAD v4: 22-45293237-G-T
• MyVariant Identifiers: chr22:g.45689118G>T (hg19) ; chr22:g.45293237G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293237G>T , CM000684.2:g.45293237G>T	GRCh38
NC_000022.10:g.45689118G>T , CM000684.1:g.45689118G>T	GRCh37
NC_000022.9:g.44067782G>T	NCBI36
NG_016203.1:g.13251G>T
NG_016203.2:g.13251G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.628G>T MANE Select	ENSP00000216211.4:p.Val210Phe
ENST00000216211.8:c.628G>T	ENSP00000216211.4:p.Val210Phe
ENST00000396082.2:c.265G>T	ENSP00000379391.2:p.Val89Phe
NM_001167574.1:c.265G>T	NP_001161046.1:p.Val89Phe
NM_006953.3:c.628G>T	NP_008884.1:p.Val210Phe
XM_011530364.1:c.634G>T	XP_011528666.1:p.Val212Phe
XM_011530365.1:c.271G>T	XP_011528667.1:p.Val91Phe
NM_006953.4:c.628G>T MANE Select	NP_008884.1:p.Val210Phe
NM_001167574.2:c.265G>T	NP_001161046.1:p.Val89Phe