Canonical Allele Identifier: CA8262457
Gene: GEMIN4 HGNC NCBI

Linked Data

dbSNP Id: rs774453569
gnomAD v2: 17-649070-T-C
gnomAD v4: 17-745830-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.745830T>C , CM000679.2:g.745830T>C GRCh38
NC_000017.10:g.649070T>C , CM000679.1:g.649070T>C GRCh37
NC_000017.9:g.595820T>C NCBI36
NG_046938.1:g.12043A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000319004.6:c.2213A>G MANE Select ENSP00000321706.5:p.Glu738Gly
ENST00000319004.5:c.2213A>G ENSP00000321706.5:p.Glu738Gly
ENST00000576778.1:c.2180A>G ENSP00000459565.1:p.Glu727Gly
NM_015721.2:c.2213A>G NP_056536.2:p.Glu738Gly
XM_005256667.3:c.2225A>G XP_005256724.1:p.Glu742Gly
XM_005256668.3:c.2225A>G XP_005256725.1:p.Glu742Gly
XM_005256670.3:c.2180A>G XP_005256727.1:p.Glu727Gly
XM_011523910.1:c.2225A>G XP_011522212.1:p.Glu742Gly
XM_011523911.1:c.2225A>G XP_011522213.1:p.Glu742Gly
XM_011523912.1:c.2180A>G XP_011522214.1:p.Glu727Gly
XM_011523913.1:c.2180A>G XP_011522215.1:p.Glu727Gly
XM_005256667.4:c.2225A>G XP_005256724.1:p.Glu742Gly
XM_005256670.5:c.2180A>G XP_005256727.1:p.Glu727Gly
XM_011523910.2:c.2225A>G XP_011522212.1:p.Glu742Gly
XM_011523911.2:c.2225A>G XP_011522213.1:p.Glu742Gly
XM_011523912.2:c.2180A>G XP_011522214.1:p.Glu727Gly
XM_011523913.2:c.2180A>G XP_011522215.1:p.Glu727Gly
XM_017024709.1:c.2225A>G XP_016880198.1:p.Glu742Gly
NM_015721.3:c.2213A>G MANE Select NP_056536.2:p.Glu738Gly