Canonical Allele Identifier: CA8262410
Gene: GEMIN4 HGNC NCBI

Linked Data

dbSNP Id: rs749008464
gnomAD v2: 17-648806-C-A
gnomAD v4: 17-745566-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.745566C>A , CM000679.2:g.745566C>A GRCh38
NC_000017.10:g.648806C>A , CM000679.1:g.648806C>A GRCh37
NC_000017.9:g.595556C>A NCBI36
NG_046938.1:g.12307G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000319004.6:c.2477G>T MANE Select ENSP00000321706.5:p.Ser826Ile
ENST00000319004.5:c.2477G>T ENSP00000321706.5:p.Ser826Ile
ENST00000576778.1:c.2444G>T ENSP00000459565.1:p.Ser815Ile
NM_015721.2:c.2477G>T NP_056536.2:p.Ser826Ile
XM_005256667.3:c.2489G>T XP_005256724.1:p.Ser830Ile
XM_005256668.3:c.2489G>T XP_005256725.1:p.Ser830Ile
XM_005256670.3:c.2444G>T XP_005256727.1:p.Ser815Ile
XM_011523910.1:c.2489G>T XP_011522212.1:p.Ser830Ile
XM_011523911.1:c.2489G>T XP_011522213.1:p.Ser830Ile
XM_011523912.1:c.2444G>T XP_011522214.1:p.Ser815Ile
XM_011523913.1:c.2444G>T XP_011522215.1:p.Ser815Ile
XM_005256667.4:c.2489G>T XP_005256724.1:p.Ser830Ile
XM_005256670.5:c.2444G>T XP_005256727.1:p.Ser815Ile
XM_011523910.2:c.2489G>T XP_011522212.1:p.Ser830Ile
XM_011523911.2:c.2489G>T XP_011522213.1:p.Ser830Ile
XM_011523912.2:c.2444G>T XP_011522214.1:p.Ser815Ile
XM_011523913.2:c.2444G>T XP_011522215.1:p.Ser815Ile
XM_017024709.1:c.2489G>T XP_016880198.1:p.Ser830Ile
NM_015721.3:c.2477G>T MANE Select NP_056536.2:p.Ser826Ile