Canonical Allele Identifier: CA397506340
Gene: GEMIN4 HGNC NCBI

Linked Data

dbSNP Id: rs1162861502
gnomAD v2: 17-649482-T-C
gnomAD v4: 17-746242-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.746242T>C , CM000679.2:g.746242T>C GRCh38
NC_000017.10:g.649482T>C , CM000679.1:g.649482T>C GRCh37
NC_000017.9:g.596232T>C NCBI36
NG_046938.1:g.11631A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000319004.6:c.1801A>G MANE Select ENSP00000321706.5:p.Thr601Ala
ENST00000319004.5:c.1801A>G ENSP00000321706.5:p.Thr601Ala
ENST00000576778.1:c.1768A>G ENSP00000459565.1:p.Thr590Ala
NM_015721.2:c.1801A>G NP_056536.2:p.Thr601Ala
XM_005256667.3:c.1813A>G XP_005256724.1:p.Thr605Ala
XM_005256668.3:c.1813A>G XP_005256725.1:p.Thr605Ala
XM_005256670.3:c.1768A>G XP_005256727.1:p.Thr590Ala
XM_011523910.1:c.1813A>G XP_011522212.1:p.Thr605Ala
XM_011523911.1:c.1813A>G XP_011522213.1:p.Thr605Ala
XM_011523912.1:c.1768A>G XP_011522214.1:p.Thr590Ala
XM_011523913.1:c.1768A>G XP_011522215.1:p.Thr590Ala
XM_005256667.4:c.1813A>G XP_005256724.1:p.Thr605Ala
XM_005256670.5:c.1768A>G XP_005256727.1:p.Thr590Ala
XM_011523910.2:c.1813A>G XP_011522212.1:p.Thr605Ala
XM_011523911.2:c.1813A>G XP_011522213.1:p.Thr605Ala
XM_011523912.2:c.1768A>G XP_011522214.1:p.Thr590Ala
XM_011523913.2:c.1768A>G XP_011522215.1:p.Thr590Ala
XM_017024709.1:c.1813A>G XP_016880198.1:p.Thr605Ala
NM_015721.3:c.1801A>G MANE Select NP_056536.2:p.Thr601Ala