LDH info

Canonical Allele Identifier: CA65603206
Gene: SMARCAL1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs13411858

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216441975T>G , CM000664.2:g.216441975T>G GRCh38
NC_000002.11:g.217306698T>G , CM000664.1:g.217306698T>G GRCh37
NC_000002.10:g.217014943T>G NCBI36
NG_009771.1:g.34562T>G , LRG_108:g.34562T>G

Transcript Alleles

HGVS Amino-acid change
NM_001127207.1:c.1710+3490T>G VV NP_001120679.1:p.=
NM_014140.3:c.1710+3490T>G , LRG_108t1:c.1710+3490T>G NP_054859.2:p.=
XM_005246631.2:c.1710+3490T>G XP_005246688.1:p.=
XM_005246632.1:c.1710+3490T>G XP_005246689.1:p.=
XM_006712557.1:c.1645-5043T>G XP_006712620.1:p.=
XM_005246632.2:c.1710+3490T>G XP_005246689.1:p.=
XM_017004228.2:c.798+3490T>G XP_016859717.1:p.=
NM_001127207.2:c.1710+3490T>G VV NP_001120679.1:p.=
NM_014140.4:c.1710+3490T>G VV MANE Preferred NP_054859.2:p.=
ENST00000357276.8:c.1710+3490T>G ENSP00000349823.4:p.=
ENST00000358207.9:c.1710+3490T>G ENSP00000350940.5:p.=
ENST00000392128.6:n.1237-5043T>G ENSP00000375974.2:p.=
ENST00000445153.1:n.383+3490T>G