LDH info

Canonical Allele Identifier: CA8262497
Gene: GEMIN4 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs3744741

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.745992C>T , CM000679.2:g.745992C>T GRCh38
NC_000017.10:g.649232C>T , CM000679.1:g.649232C>T GRCh37
NC_000017.9:g.595982C>T NCBI36
NG_046938.1:g.11881G>A

Transcript Alleles

HGVS Amino-acid change
NM_015721.2:c.2051G>A VV NP_056536.2:p.Arg684Gln
XM_005256667.3:c.2063G>A XP_005256724.1:p.Arg688Gln
XM_005256668.3:c.2063G>A XP_005256725.1:p.Arg688Gln
XM_005256670.3:c.2018G>A XP_005256727.1:p.Arg673Gln
XM_011523910.1:c.2063G>A XP_011522212.1:p.Arg688Gln
XM_011523911.1:c.2063G>A XP_011522213.1:p.Arg688Gln
XM_011523912.1:c.2018G>A XP_011522214.1:p.Arg673Gln
XM_011523913.1:c.2018G>A XP_011522215.1:p.Arg673Gln
XM_005256667.4:c.2063G>A XP_005256724.1:p.Arg688Gln
XM_005256670.5:c.2018G>A XP_005256727.1:p.Arg673Gln
XM_011523910.2:c.2063G>A XP_011522212.1:p.Arg688Gln
XM_011523911.2:c.2063G>A XP_011522213.1:p.Arg688Gln
XM_011523912.2:c.2018G>A XP_011522214.1:p.Arg673Gln
XM_011523913.2:c.2018G>A XP_011522215.1:p.Arg673Gln
XM_017024709.1:c.2063G>A XP_016880198.1:p.Arg688Gln
NM_015721.3:c.2051G>A VV MANE Preferred NP_056536.2:p.Arg684Gln
ENST00000319004.5:c.2051G>A ENSP00000321706.5:p.Arg684Gln
ENST00000576778.1:c.2018G>A ENSP00000459565.1:p.Arg673Gln