Canonical Allele Identifier: CA411879470
Gene: UPK3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45293285T>G , CM000684.2:g.45293285T>G GRCh38
NC_000022.10:g.45689166T>G , CM000684.1:g.45689166T>G GRCh37
NC_000022.9:g.44067830T>G NCBI36
NG_016203.1:g.13299T>G
NG_016203.2:g.13299T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216211.9:c.676T>G MANE Select ENSP00000216211.4:p.Phe226Val
ENST00000216211.8:c.676T>G ENSP00000216211.4:p.Phe226Val
ENST00000396082.2:c.313T>G ENSP00000379391.2:p.Phe105Val
NM_001167574.1:c.313T>G NP_001161046.1:p.Phe105Val
NM_006953.3:c.676T>G NP_008884.1:p.Phe226Val
XM_011530364.1:c.682T>G XP_011528666.1:p.Phe228Val
XM_011530365.1:c.319T>G XP_011528667.1:p.Phe107Val
NM_006953.4:c.676T>G MANE Select NP_008884.1:p.Phe226Val
NM_001167574.2:c.313T>G NP_001161046.1:p.Phe105Val