Canonical Allele Identifier: CA2242474016
Community Standard Title: NM_015721.3(GEMIN4):c.3097C= (p.Arg1033=)
Gene: GEMIN4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.744946G= , CM000679.2:g.744946G= GRCh38
NC_000017.10:g.648186G= , CM000679.1:g.648186G= GRCh37
NC_000017.9:g.594936G= NCBI36
NG_046938.1:g.12927C=

Transcript Alleles

HGVS Amino-acid Change
NM_015721.3:c.3097C= MANE Select NP_056536.2:p.Arg1033=
ENST00000319004.6:c.3097C= MANE Select ENSP00000321706.5:p.Arg1033=
NM_015721.2:c.3097C= NP_056536.2:p.Arg1033=
ENST00000319004.5:c.3097C= ENSP00000321706.5:p.Arg1033=
ENST00000576778.1:c.3064C= ENSP00000459565.1:p.Arg1022=
XM_005256667.3:c.3109C= XP_005256724.1:p.Arg1037=
XM_005256667.4:c.3109C= XP_005256724.1:p.Arg1037=
XM_005256668.3:c.3109C= XP_005256725.1:p.Arg1037=
XM_005256670.3:c.3064C= XP_005256727.1:p.Arg1022=
XM_005256670.5:c.3064C= XP_005256727.1:p.Arg1022=
XM_011523910.1:c.3109C= XP_011522212.1:p.Arg1037=
XM_011523910.2:c.3109C= XP_011522212.1:p.Arg1037=
XM_011523911.1:c.3109C= XP_011522213.1:p.Arg1037=
XM_011523911.2:c.3109C= XP_011522213.1:p.Arg1037=
XM_011523912.1:c.3064C= XP_011522214.1:p.Arg1022=
XM_011523912.2:c.3064C= XP_011522214.1:p.Arg1022=
XM_011523913.1:c.3064C= XP_011522215.1:p.Arg1022=
XM_011523913.2:c.3064C= XP_011522215.1:p.Arg1022=
XM_017024709.1:c.3109C= XP_016880198.1:p.Arg1037=