LDH info

Canonical Allele Identifier: CA8053468
Gene: SALL1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 258875
dbSNP Id: rs13336129

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.51141747T>C , CM000678.2:g.51141747T>C GRCh38
NC_000016.9:g.51175658T>C , CM000678.1:g.51175658T>C GRCh37
NC_000016.8:g.49733159T>C NCBI36
NG_007990.1:g.14526A>G , LRG_674:g.14526A>G

Transcript Alleles

HGVS Amino-acid change
NM_001127892.1:c.184A>G VV NP_001121364.1:p.Ser62Gly
NM_002968.2:c.475A>G , LRG_674t1:c.475A>G NP_002959.2:p.Ser159Gly
XM_006721241.2:c.475A>G XP_006721304.1:p.Ser159Gly
XM_011523254.1:c.475A>G XP_011521556.1:p.Ser159Gly
XM_011523255.1:c.475A>G XP_011521557.1:p.Ser159Gly
ENST00000251020.8:c.475A>G ENSP00000251020.4:p.Ser159Gly
ENST00000440970.5:c.184A>G ENSP00000407914.1:p.Ser62Gly
ENST00000566102.1:n.77-4195A>G ENSP00000455582.1:p.=
ENST00000570206.1:c.184A>G ENSP00000456777.1:p.Ser62Gly