Canonical Allele Identifier: CA411879560
Gene: UPK3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45293309C>G , CM000684.2:g.45293309C>G GRCh38
NC_000022.10:g.45689190C>G , CM000684.1:g.45689190C>G GRCh37
NC_000022.9:g.44067854C>G NCBI36
NG_016203.1:g.13323C>G
NG_016203.2:g.13323C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216211.9:c.700C>G MANE Select ENSP00000216211.4:p.Leu234Val
ENST00000216211.8:c.700C>G ENSP00000216211.4:p.Leu234Val
ENST00000396082.2:c.337C>G ENSP00000379391.2:p.Leu113Val
NM_001167574.1:c.337C>G NP_001161046.1:p.Leu113Val
NM_006953.3:c.700C>G NP_008884.1:p.Leu234Val
XM_011530364.1:c.706C>G XP_011528666.1:p.Leu236Val
XM_011530365.1:c.343C>G XP_011528667.1:p.Leu115Val
NM_006953.4:c.700C>G MANE Select NP_008884.1:p.Leu234Val
NM_001167574.2:c.337C>G NP_001161046.1:p.Leu113Val