Canonical Allele Identifier: CA8262590
Gene: GEMIN4 HGNC NCBI

Linked Data

dbSNP Id: rs775841183
gnomAD v2: 17-649640-G-A
gnomAD v3: 17-746400-G-A
gnomAD v4: 17-746400-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.746400G>A , CM000679.2:g.746400G>A GRCh38
NC_000017.10:g.649640G>A , CM000679.1:g.649640G>A GRCh37
NC_000017.9:g.596390G>A NCBI36
NG_046938.1:g.11473C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000319004.6:c.1643C>T MANE Select ENSP00000321706.5:p.Ser548Phe
ENST00000319004.5:c.1643C>T ENSP00000321706.5:p.Ser548Phe
ENST00000576778.1:c.1610C>T ENSP00000459565.1:p.Ser537Phe
NM_015721.2:c.1643C>T NP_056536.2:p.Ser548Phe
XM_005256667.3:c.1655C>T XP_005256724.1:p.Ser552Phe
XM_005256668.3:c.1655C>T XP_005256725.1:p.Ser552Phe
XM_005256670.3:c.1610C>T XP_005256727.1:p.Ser537Phe
XM_011523910.1:c.1655C>T XP_011522212.1:p.Ser552Phe
XM_011523911.1:c.1655C>T XP_011522213.1:p.Ser552Phe
XM_011523912.1:c.1610C>T XP_011522214.1:p.Ser537Phe
XM_011523913.1:c.1610C>T XP_011522215.1:p.Ser537Phe
XM_005256667.4:c.1655C>T XP_005256724.1:p.Ser552Phe
XM_005256670.5:c.1610C>T XP_005256727.1:p.Ser537Phe
XM_011523910.2:c.1655C>T XP_011522212.1:p.Ser552Phe
XM_011523911.2:c.1655C>T XP_011522213.1:p.Ser552Phe
XM_011523912.2:c.1610C>T XP_011522214.1:p.Ser537Phe
XM_011523913.2:c.1610C>T XP_011522215.1:p.Ser537Phe
XM_017024709.1:c.1655C>T XP_016880198.1:p.Ser552Phe
NM_015721.3:c.1643C>T MANE Select NP_056536.2:p.Ser548Phe