Canonical Allele Identifier: CA7958702
Community Standard Title: NM_020718.4(USP31):c.2888T>C (p.Val963Ala)
Gene: USP31 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23069217A>G , CM000678.2:g.23069217A>G GRCh38
NC_000016.9:g.23080538A>G , CM000678.1:g.23080538A>G GRCh37
NC_000016.8:g.22988039A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_020718.4:c.2888T>C MANE Select NP_065769.3:p.Val963Ala
ENST00000219689.12:c.2888T>C MANE Select ENSP00000219689.7:p.Val963Ala
NM_001387221.1:c.2768T>C NP_001374150.1:p.Val923Ala
NM_020718.3:c.2888T>C NP_065769.3:p.Val963Ala
NR_170599.1:n.3181T>C
ENST00000219689.11:c.2888T>C ENSP00000219689.7:p.Val963Ala
ENST00000567975.1:c.767T>C ENSP00000461621.1:p.Val256Ala
XM_011545909.1:c.2099T>C XP_011544211.1:p.Val700Ala
XM_011545910.1:c.2099T>C XP_011544212.1:p.Val700Ala
XM_017023496.2:c.2768T>C XP_016878985.1:p.Val923Ala
XM_017023497.2:c.2099T>C XP_016878986.1:p.Val700Ala
XM_017023498.2:c.2099T>C XP_016878987.1:p.Val700Ala
XM_017023499.2:c.1889T>C XP_016878988.1:p.Val630Ala
XR_001751957.1:n.2869T>C