Canonical Allele Identifier: CA8866059
Community Standard Title: NM_005151.4(USP14):c.1395G>T (p.Arg465=)
Gene: USP14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.211194G>T , CM000680.2:g.211194G>T GRCh38
NC_000018.9:g.211194G>T , CM000680.1:g.211194G>T GRCh37
NC_000018.8:g.201194G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_005151.4:c.1395G>T MANE Select NP_005142.1:p.Arg465=
ENST00000261601.8:c.1395G>T MANE Select ENSP00000261601.6:p.Arg465=
NM_001037334.1:c.1290G>T NP_001032411.1:p.Arg430=
NM_001037334.2:c.1290G>T NP_001032411.1:p.Arg430=
NM_005151.3:c.1395G>T NP_005142.1:p.Arg465=
ENST00000261601.7:c.1395G>T ENSP00000261601.6:p.Arg465=
ENST00000383589.6:c.1257G>T ENSP00000373083.2:p.Arg419=
ENST00000400266.7:c.1362G>T ENSP00000383125.3:p.Arg454=
ENST00000578786.1:n.1030G>T
ENST00000578942.5:n.1782G>T
ENST00000582707.5:c.1290G>T ENSP00000464447.1:p.Arg430=