LDH info

Canonical Allele Identifier: CA16041892
Gene: GAA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370077
ClinVar RCV Id: RCV000409997
dbSNP Id: rs1057516215

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108609T>C , CM000679.2:g.80108609T>C GRCh38
NC_000017.10:g.78082408T>C , CM000679.1:g.78082408T>C GRCh37
NC_000017.9:g.75697003T>C NCBI36
NG_009822.1:g.12054T>C , LRG_673:g.12054T>C

Transcript Alleles

HGVS Amino-acid change
NM_000152.3:c.1194+2T>C , LRG_673t1:c.1194+2T>C NP_000143.2:p.=
NM_001079803.1:c.1194+2T>C VV NP_001073271.1:p.=
NM_001079804.1:c.1194+2T>C VV NP_001073272.1:p.=
XM_005257193.1:c.1194+2T>C XP_005257250.1:p.=
XM_005257194.3:c.1194+2T>C XP_005257251.1:p.=
NM_000152.4:c.1194+2T>C VV NP_000143.2:p.=
NM_001079803.2:c.1194+2T>C VV NP_001073271.1:p.=
NM_001079804.2:c.1194+2T>C VV NP_001073272.1:p.=
XM_005257193.2:c.1194+2T>C XP_005257250.1:p.=
XM_005257194.4:c.1194+2T>C XP_005257251.1:p.=
NM_000152.5:c.1194+2T>C VV MANE Preferred NP_000143.2:p.=
NM_001079803.3:c.1194+2T>C VV NP_001073271.1:p.=
NM_001079804.3:c.1194+2T>C VV NP_001073272.1:p.=
ENST00000302262.7:c.1194+2T>C ENSP00000305692.3:p.=
ENST00000390015.7:c.1194+2T>C ENSP00000374665.3:p.=