Canonical Allele Identifier: CA8262493
Gene: GEMIN4 HGNC NCBI

Linked Data

dbSNP Id: rs779108447
gnomAD v2: 17-649206-A-T
gnomAD v4: 17-745966-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.745966A>T , CM000679.2:g.745966A>T GRCh38
NC_000017.10:g.649206A>T , CM000679.1:g.649206A>T GRCh37
NC_000017.9:g.595956A>T NCBI36
NG_046938.1:g.11907T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319004.6:c.2077T>A MANE Select ENSP00000321706.5:p.Ser693Thr
ENST00000319004.5:c.2077T>A ENSP00000321706.5:p.Ser693Thr
ENST00000576778.1:c.2044T>A ENSP00000459565.1:p.Ser682Thr
NM_015721.2:c.2077T>A NP_056536.2:p.Ser693Thr
XM_005256667.3:c.2089T>A XP_005256724.1:p.Ser697Thr
XM_005256668.3:c.2089T>A XP_005256725.1:p.Ser697Thr
XM_005256670.3:c.2044T>A XP_005256727.1:p.Ser682Thr
XM_011523910.1:c.2089T>A XP_011522212.1:p.Ser697Thr
XM_011523911.1:c.2089T>A XP_011522213.1:p.Ser697Thr
XM_011523912.1:c.2044T>A XP_011522214.1:p.Ser682Thr
XM_011523913.1:c.2044T>A XP_011522215.1:p.Ser682Thr
XM_005256667.4:c.2089T>A XP_005256724.1:p.Ser697Thr
XM_005256670.5:c.2044T>A XP_005256727.1:p.Ser682Thr
XM_011523910.2:c.2089T>A XP_011522212.1:p.Ser697Thr
XM_011523911.2:c.2089T>A XP_011522213.1:p.Ser697Thr
XM_011523912.2:c.2044T>A XP_011522214.1:p.Ser682Thr
XM_011523913.2:c.2044T>A XP_011522215.1:p.Ser682Thr
XM_017024709.1:c.2089T>A XP_016880198.1:p.Ser697Thr
NM_015721.3:c.2077T>A MANE Select NP_056536.2:p.Ser693Thr