Canonical Allele Identifier: CA411879488
Gene: UPK3A HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000216211.9:c.685G>T MANE Select ENSP00000216211.4:p.Ala229Ser
ENST00000216211.8:c.685G>T ENSP00000216211.4:p.Ala229Ser
ENST00000396082.2:c.322G>T ENSP00000379391.2:p.Ala108Ser
NM_001167574.1:c.322G>T NP_001161046.1:p.Ala108Ser
NM_006953.3:c.685G>T NP_008884.1:p.Ala229Ser
XM_011530364.1:c.691G>T XP_011528666.1:p.Ala231Ser
XM_011530365.1:c.328G>T XP_011528667.1:p.Ala110Ser
NM_006953.4:c.685G>T MANE Select NP_008884.1:p.Ala229Ser
NM_001167574.2:c.322G>T NP_001161046.1:p.Ala108Ser