Canonical Allele Identifier: CA414981958
Gene: USP9Y HGNC NCBI

Linked Data

dbSNP Id: rs1484623182
gnomAD v2: Y-14838701-G-A
gnomAD v3: Y-12726768-G-A
gnomAD v4: Y-12726768-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12726768G>A , CM000686.2:g.12726768G>A GRCh38
NC_000024.9:g.14838701G>A , CM000686.1:g.14838701G>A GRCh37
NC_000024.8:g.13348095G>A NCBI36
NG_008311.1:g.30542G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000651177.1:c.632G>A ENSP00000498372.1:p.Arg211His
ENST00000338981.7:c.632G>A MANE Select ENSP00000342812.3:p.Arg211His
ENST00000426564.6:n.644G>A
NM_004654.3:c.632G>A NP_004645.2:p.Arg211His
XM_011531469.1:c.632G>A XP_011529771.1:p.Arg211His
XM_011531470.1:c.398G>A XP_011529772.1:p.Arg133His
XM_017030078.2:c.632G>A XP_016885567.1:p.Arg211His
NM_004654.4:c.632G>A MANE Select NP_004645.2:p.Arg211His