Canonical Allele Identifier: CA2242474497
Gene: GEMIN4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.745960A= , CM000679.2:g.745960A= GRCh38
NC_000017.10:g.649200A= , CM000679.1:g.649200A= GRCh37
NC_000017.9:g.595950A= NCBI36
NG_046938.1:g.11913T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000319004.6:c.2083T= MANE Select ENSP00000321706.5:p.Phe695=
ENST00000319004.5:c.2083T= ENSP00000321706.5:p.Phe695=
ENST00000576778.1:c.2050T= ENSP00000459565.1:p.Phe684=
NM_015721.2:c.2083T= NP_056536.2:p.Phe695=
XM_005256667.3:c.2095T= XP_005256724.1:p.Phe699=
XM_005256668.3:c.2095T= XP_005256725.1:p.Phe699=
XM_005256670.3:c.2050T= XP_005256727.1:p.Phe684=
XM_011523910.1:c.2095T= XP_011522212.1:p.Phe699=
XM_011523911.1:c.2095T= XP_011522213.1:p.Phe699=
XM_011523912.1:c.2050T= XP_011522214.1:p.Phe684=
XM_011523913.1:c.2050T= XP_011522215.1:p.Phe684=
XM_005256667.4:c.2095T= XP_005256724.1:p.Phe699=
XM_005256670.5:c.2050T= XP_005256727.1:p.Phe684=
XM_011523910.2:c.2095T= XP_011522212.1:p.Phe699=
XM_011523911.2:c.2095T= XP_011522213.1:p.Phe699=
XM_011523912.2:c.2050T= XP_011522214.1:p.Phe684=
XM_011523913.2:c.2050T= XP_011522215.1:p.Phe684=
XM_017024709.1:c.2095T= XP_016880198.1:p.Phe699=
NM_015721.3:c.2083T= MANE Select NP_056536.2:p.Phe695=