Canonical Allele Identifier: CA8579048
Gene: PSMC3IP HGNC NCBI

Linked Data

ClinVar Variation Id: 499796
ClinVar RCV Id: RCV000593144
dbSNP Id: rs140033860

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42574156C>T , CM000679.2:g.42574156C>T GRCh38
NC_000017.10:g.40726174C>T , CM000679.1:g.40726174C>T GRCh37
NC_000017.9:g.37979700C>T NCBI36
NG_029442.1:g.12097C>T
NG_031960.1:g.8676G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000393795.8:c.280G>A MANE Select ENSP00000377384.2:p.Val94Met
ENST00000253789.9:c.280G>A ENSP00000253789.4:p.Val94Met
ENST00000393795.7:c.280G>A ENSP00000377384.2:p.Val94Met
ENST00000586337.5:c.*44G>A ENSP00000466031.1:n.*44G>A
ENST00000587209.5:c.91G>A ENSP00000468188.1:p.Val31Met
ENST00000588544.5:c.*155G>A ENSP00000465409.1:n.*155G>A
ENST00000589505.5:n.389G>A
ENST00000590760.5:c.-39+40G>A ENSP00000466381.1:n.-39+40G>A
ENST00000590931.1:c.280G>A ENSP00000467952.1:p.Val94Met
NM_001256014.1:c.91G>A NP_001242943.1:p.Val31Met
NM_001256015.1:c.43G>A NP_001242944.1:p.Val15Met
NM_001256016.1:c.43G>A NP_001242945.1:p.Val15Met
NM_013290.6:c.280G>A NP_037422.2:p.Val94Met
NM_016556.3:c.280G>A NP_057640.1:p.Val94Met
NR_045669.1:n.425G>A
NR_045670.1:n.385+40G>A
NR_045671.1:n.361+40G>A
NM_016556.4:c.280G>A MANE Select NP_057640.1:p.Val94Met
NM_001256014.2:c.91G>A NP_001242943.1:p.Val31Met
NM_001256015.2:c.43G>A NP_001242944.1:p.Val15Met
NM_001256016.2:c.43G>A NP_001242945.1:p.Val15Met
NM_013290.7:c.280G>A NP_037422.2:p.Val94Met
NR_045671.2:n.374+40G>A