Canonical Allele Identifier: CA397504266

Gene: GEMIN4

Linked Data

• dbSNP Id: rs1394455753
• gnomAD v2: 17-649050-C-T
• gnomAD v4: 17-745810-C-T
• MyVariant Identifiers: chr17:g.649050C>T (hg19) ; chr17:g.745810C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.745810C>T , CM000679.2:g.745810C>T	GRCh38
NC_000017.10:g.649050C>T , CM000679.1:g.649050C>T	GRCh37
NC_000017.9:g.595800C>T	NCBI36
NG_046938.1:g.12063G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.2233G>A MANE Select	ENSP00000321706.5:p.Glu745Lys
ENST00000319004.5:c.2233G>A	ENSP00000321706.5:p.Glu745Lys
ENST00000576778.1:c.2200G>A	ENSP00000459565.1:p.Glu734Lys
NM_015721.2:c.2233G>A	NP_056536.2:p.Glu745Lys
XM_005256667.3:c.2245G>A	XP_005256724.1:p.Glu749Lys
XM_005256668.3:c.2245G>A	XP_005256725.1:p.Glu749Lys
XM_005256670.3:c.2200G>A	XP_005256727.1:p.Glu734Lys
XM_011523910.1:c.2245G>A	XP_011522212.1:p.Glu749Lys
XM_011523911.1:c.2245G>A	XP_011522213.1:p.Glu749Lys
XM_011523912.1:c.2200G>A	XP_011522214.1:p.Glu734Lys
XM_011523913.1:c.2200G>A	XP_011522215.1:p.Glu734Lys
XM_005256667.4:c.2245G>A	XP_005256724.1:p.Glu749Lys
XM_005256670.5:c.2200G>A	XP_005256727.1:p.Glu734Lys
XM_011523910.2:c.2245G>A	XP_011522212.1:p.Glu749Lys
XM_011523911.2:c.2245G>A	XP_011522213.1:p.Glu749Lys
XM_011523912.2:c.2200G>A	XP_011522214.1:p.Glu734Lys
XM_011523913.2:c.2200G>A	XP_011522215.1:p.Glu734Lys
XM_017024709.1:c.2245G>A	XP_016880198.1:p.Glu749Lys
NM_015721.3:c.2233G>A MANE Select	NP_056536.2:p.Glu745Lys