Canonical Allele Identifier: CA2657267320
Gene: UPK3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45293433C>T , CM000684.2:g.45293433C>T GRCh38
NC_000022.10:g.45689314C>T , CM000684.1:g.45689314C>T GRCh37
NC_000022.9:g.44067978C>T NCBI36
NG_016203.1:g.13447C>T
NG_016203.2:g.13447C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216211.9:c.704+120C>T MANE Select ENSP00000216211.4:n.704+120C>T
ENST00000216211.8:c.704+120C>T ENSP00000216211.4:n.704+120C>T
ENST00000396082.2:c.341+120C>T ENSP00000379391.2:n.341+120C>T
NM_001167574.1:c.341+120C>T NP_001161046.1:n.341+120C>T
NM_006953.3:c.704+120C>T NP_008884.1:n.704+120C>T
XM_011530364.1:c.710+120C>T XP_011528666.1:n.710+120C>T
XM_011530365.1:c.347+120C>T XP_011528667.1:n.347+120C>T
NM_006953.4:c.704+120C>T MANE Select NP_008884.1:n.704+120C>T
NM_001167574.2:c.341+120C>T NP_001161046.1:n.341+120C>T