Canonical Allele Identifier: CA8262399

Gene: GEMIN4

Linked Data

• dbSNP Id: rs776790470
• ExAC: 17:648752 T / A
• gnomAD v2: 17-648752-T-A
• gnomAD v4: 17-745512-T-A
• MyVariant Identifiers: chr17:g.648752T>A (hg19) ; chr17:g.745512T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.745512T>A , CM000679.2:g.745512T>A	GRCh38
NC_000017.10:g.648752T>A , CM000679.1:g.648752T>A	GRCh37
NC_000017.9:g.595502T>A	NCBI36
NG_046938.1:g.12361A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.2531A>T MANE Select	ENSP00000321706.5:p.Glu844Val
ENST00000319004.5:c.2531A>T	ENSP00000321706.5:p.Glu844Val
ENST00000576778.1:c.2498A>T	ENSP00000459565.1:p.Glu833Val
NM_015721.2:c.2531A>T	NP_056536.2:p.Glu844Val
XM_005256667.3:c.2543A>T	XP_005256724.1:p.Glu848Val
XM_005256668.3:c.2543A>T	XP_005256725.1:p.Glu848Val
XM_005256670.3:c.2498A>T	XP_005256727.1:p.Glu833Val
XM_011523910.1:c.2543A>T	XP_011522212.1:p.Glu848Val
XM_011523911.1:c.2543A>T	XP_011522213.1:p.Glu848Val
XM_011523912.1:c.2498A>T	XP_011522214.1:p.Glu833Val
XM_011523913.1:c.2498A>T	XP_011522215.1:p.Glu833Val
XM_005256667.4:c.2543A>T	XP_005256724.1:p.Glu848Val
XM_005256670.5:c.2498A>T	XP_005256727.1:p.Glu833Val
XM_011523910.2:c.2543A>T	XP_011522212.1:p.Glu848Val
XM_011523911.2:c.2543A>T	XP_011522213.1:p.Glu848Val
XM_011523912.2:c.2498A>T	XP_011522214.1:p.Glu833Val
XM_011523913.2:c.2498A>T	XP_011522215.1:p.Glu833Val
XM_017024709.1:c.2543A>T	XP_016880198.1:p.Glu848Val
NM_015721.3:c.2531A>T MANE Select	NP_056536.2:p.Glu844Val