Canonical Allele Identifier: CA411879375
Gene: UPK3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45293258T>C , CM000684.2:g.45293258T>C GRCh38
NC_000022.10:g.45689139T>C , CM000684.1:g.45689139T>C GRCh37
NC_000022.9:g.44067803T>C NCBI36
NG_016203.1:g.13272T>C
NG_016203.2:g.13272T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216211.9:c.649T>C MANE Select ENSP00000216211.4:p.Ser217Pro
ENST00000216211.8:c.649T>C ENSP00000216211.4:p.Ser217Pro
ENST00000396082.2:c.286T>C ENSP00000379391.2:p.Ser96Pro
NM_001167574.1:c.286T>C NP_001161046.1:p.Ser96Pro
NM_006953.3:c.649T>C NP_008884.1:p.Ser217Pro
XM_011530364.1:c.655T>C XP_011528666.1:p.Ser219Pro
XM_011530365.1:c.292T>C XP_011528667.1:p.Ser98Pro
NM_006953.4:c.649T>C MANE Select NP_008884.1:p.Ser217Pro
NM_001167574.2:c.286T>C NP_001161046.1:p.Ser96Pro