Canonical Allele Identifier: CA8262953

Gene: GEMIN4

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.747904C>T , CM000679.2:g.747904C>T	GRCh38
NC_000017.10:g.651144C>T , CM000679.1:g.651144C>T	GRCh37
NC_000017.9:g.597894C>T	NCBI36
NG_046938.1:g.9969G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015721.3:c.139G>A MANE Select	NP_056536.2:p.Val47Met
ENST00000319004.6:c.139G>A MANE Select	ENSP00000321706.5:p.Val47Met
NM_015721.2:c.139G>A	NP_056536.2:p.Val47Met
ENST00000319004.5:c.139G>A	ENSP00000321706.5:p.Val47Met
ENST00000437269.1:c.139G>A	ENSP00000392460.1:p.Val47Met
ENST00000570364.5:c.151G>A	ENSP00000461103.1:p.Val51Met
ENST00000573482.5:c.151G>A	ENSP00000460286.1:p.Val51Met
ENST00000574958.1:c.151G>A	ENSP00000458896.1:p.Val51Met
ENST00000576383.1:c.106G>A	ENSP00000461368.1:p.Val36Met
ENST00000576778.1:c.106G>A	ENSP00000459565.1:p.Val36Met
XM_005256667.3:c.151G>A	XP_005256724.1:p.Val51Met
XM_005256667.4:c.151G>A	XP_005256724.1:p.Val51Met
XM_005256668.3:c.151G>A	XP_005256725.1:p.Val51Met
XM_005256670.3:c.106G>A	XP_005256727.1:p.Val36Met
XM_005256670.5:c.106G>A	XP_005256727.1:p.Val36Met
XM_011523910.1:c.151G>A	XP_011522212.1:p.Val51Met
XM_011523910.2:c.151G>A	XP_011522212.1:p.Val51Met
XM_011523911.1:c.151G>A	XP_011522213.1:p.Val51Met
XM_011523911.2:c.151G>A	XP_011522213.1:p.Val51Met
XM_011523912.1:c.106G>A	XP_011522214.1:p.Val36Met
XM_011523912.2:c.106G>A	XP_011522214.1:p.Val36Met
XM_011523913.1:c.106G>A	XP_011522215.1:p.Val36Met
XM_011523913.2:c.106G>A	XP_011522215.1:p.Val36Met
XM_017024709.1:c.151G>A	XP_016880198.1:p.Val51Met