Canonical Allele Identifier: CA414989581
Gene: USP9Y HGNC NCBI

Linked Data

dbSNP Id: rs2053529552
gnomAD v3: Y-12810723-C-T
gnomAD v4: Y-12810723-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12810723C>T , CM000686.2:g.12810723C>T GRCh38
NC_000024.9:g.14922658C>T , CM000686.1:g.14922658C>T GRCh37
NC_000024.8:g.13432052C>T NCBI36
NG_008311.1:g.114499C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000651177.1:c.4144C>T ENSP00000498372.1:p.Arg1382Trp
ENST00000338981.7:c.4144C>T MANE Select ENSP00000342812.3:p.Arg1382Trp
ENST00000426564.6:n.4156C>T
NM_004654.3:c.4144C>T NP_004645.2:p.Arg1382Trp
XM_011531469.1:c.4144C>T XP_011529771.1:p.Arg1382Trp
XM_011531470.1:c.3910C>T XP_011529772.1:p.Arg1304Trp
XM_017030078.2:c.4159C>T XP_016885567.1:p.Arg1387Trp
NM_004654.4:c.4144C>T MANE Select NP_004645.2:p.Arg1382Trp