LDH info

Canonical Allele Identifier: CA201516
Gene: LIPA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 195049
dbSNP Id: rs1051338

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89247603T>G , CM000672.2:g.89247603T>G GRCh38
NC_000010.10:g.91007360T>G , CM000672.1:g.91007360T>G GRCh37
NC_000010.9:g.90997340T>G NCBI36
NG_008194.1:g.9301A>C

Transcript Alleles

HGVS Amino-acid change
NM_000235.3:c.46A>C VV NP_000226.2:p.Thr16Pro
NM_001127605.2:c.46A>C VV NP_001121077.1:p.Thr16Pro
NM_001288979.1:c.-120+4134A>C VV NP_001275908.1:p.=
XM_024448023.1:c.46A>C XP_024303791.1:p.Thr16Pro
NM_000235.4:c.46A>C VV MANE Preferred NP_000226.2:p.Thr16Pro
NM_001127605.3:c.46A>C VV NP_001121077.1:p.Thr16Pro
ENST00000282673.5:c.46A>C ENSP00000282673.4:p.Thr16Pro
ENST00000336233.9:c.46A>C ENSP00000337354.5:p.Thr16Pro
ENST00000371837.5:c.62-19205A>C ENSP00000360903.1:p.=
ENST00000428800.5:c.46A>C ENSP00000388415.1:p.Thr16Pro
ENST00000456827.5:c.-120+4134A>C ENSP00000413019.2:p.=