Canonical Allele Identifier: CA8262437

Gene: GEMIN4

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.745697G>T , CM000679.2:g.745697G>T	GRCh38
NC_000017.10:g.648937G>T , CM000679.1:g.648937G>T	GRCh37
NC_000017.9:g.595687G>T	NCBI36
NG_046938.1:g.12176C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015721.3:c.2346C>A MANE Select	NP_056536.2:p.Phe782Leu
ENST00000319004.6:c.2346C>A MANE Select	ENSP00000321706.5:p.Phe782Leu
NM_015721.2:c.2346C>A	NP_056536.2:p.Phe782Leu
ENST00000319004.5:c.2346C>A	ENSP00000321706.5:p.Phe782Leu
ENST00000576778.1:c.2313C>A	ENSP00000459565.1:p.Phe771Leu
XM_005256667.3:c.2358C>A	XP_005256724.1:p.Phe786Leu
XM_005256667.4:c.2358C>A	XP_005256724.1:p.Phe786Leu
XM_005256668.3:c.2358C>A	XP_005256725.1:p.Phe786Leu
XM_005256670.3:c.2313C>A	XP_005256727.1:p.Phe771Leu
XM_005256670.5:c.2313C>A	XP_005256727.1:p.Phe771Leu
XM_011523910.1:c.2358C>A	XP_011522212.1:p.Phe786Leu
XM_011523910.2:c.2358C>A	XP_011522212.1:p.Phe786Leu
XM_011523911.1:c.2358C>A	XP_011522213.1:p.Phe786Leu
XM_011523911.2:c.2358C>A	XP_011522213.1:p.Phe786Leu
XM_011523912.1:c.2313C>A	XP_011522214.1:p.Phe771Leu
XM_011523912.2:c.2313C>A	XP_011522214.1:p.Phe771Leu
XM_011523913.1:c.2313C>A	XP_011522215.1:p.Phe771Leu
XM_011523913.2:c.2313C>A	XP_011522215.1:p.Phe771Leu
XM_017024709.1:c.2358C>A	XP_016880198.1:p.Phe786Leu