Canonical Allele Identifier: CA10284503
Gene: UPK3A HGNC NCBI

Linked Data

dbSNP Id: rs778534272
ExAC: 22:45689175 G / A
gnomAD v2: 22-45689175-G-A
gnomAD v3: 22-45293294-G-A
gnomAD v4: 22-45293294-G-A
COSMIC: COSM1714479
MyVariant Identifiers: chr22:g.45689175G>A (hg19) chr22:g.45293294G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45293294G>A , CM000684.2:g.45293294G>A GRCh38
NC_000022.10:g.45689175G>A , CM000684.1:g.45689175G>A GRCh37
NC_000022.9:g.44067839G>A NCBI36
NG_016203.1:g.13308G>A
NG_016203.2:g.13308G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216211.9:c.685G>A MANE Select ENSP00000216211.4:p.Ala229Thr
ENST00000216211.8:c.685G>A ENSP00000216211.4:p.Ala229Thr
ENST00000396082.2:c.322G>A ENSP00000379391.2:p.Ala108Thr
NM_001167574.1:c.322G>A NP_001161046.1:p.Ala108Thr
NM_006953.3:c.685G>A NP_008884.1:p.Ala229Thr
XM_011530364.1:c.691G>A XP_011528666.1:p.Ala231Thr
XM_011530365.1:c.328G>A XP_011528667.1:p.Ala110Thr
NM_006953.4:c.685G>A MANE Select NP_008884.1:p.Ala229Thr
NM_001167574.2:c.322G>A NP_001161046.1:p.Ala108Thr
Search 100 bp 5'
Search 100 bp 3'