Canonical Allele Identifier: CA411879457
Gene: UPK3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45293279G>C , CM000684.2:g.45293279G>C GRCh38
NC_000022.10:g.45689160G>C , CM000684.1:g.45689160G>C GRCh37
NC_000022.9:g.44067824G>C NCBI36
NG_016203.1:g.13293G>C
NG_016203.2:g.13293G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216211.9:c.670G>C MANE Select ENSP00000216211.4:p.Val224Leu
ENST00000216211.8:c.670G>C ENSP00000216211.4:p.Val224Leu
ENST00000396082.2:c.307G>C ENSP00000379391.2:p.Val103Leu
NM_001167574.1:c.307G>C NP_001161046.1:p.Val103Leu
NM_006953.3:c.670G>C NP_008884.1:p.Val224Leu
XM_011530364.1:c.676G>C XP_011528666.1:p.Val226Leu
XM_011530365.1:c.313G>C XP_011528667.1:p.Val105Leu
NM_006953.4:c.670G>C MANE Select NP_008884.1:p.Val224Leu
NM_001167574.2:c.307G>C NP_001161046.1:p.Val103Leu