LDH info

Canonical Allele Identifier: CA253836
Gene: ASS1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6331
ClinVar RCV Id: RCV000006703
dbSNP Id: rs121908643

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130452281C>T , CM000671.2:g.130452281C>T GRCh38
NC_000009.11:g.133327668C>T , CM000671.1:g.133327668C>T GRCh37
NC_000009.10:g.132317489C>T NCBI36
NG_011542.1:g.12575C>T

Transcript Alleles

HGVS Amino-acid change
NM_000050.4:c.53C>T VV NP_000041.2:p.Ser18Leu
NM_054012.3:c.53C>T VV NP_446464.1:p.Ser18Leu
XM_005272200.2:c.53C>T XP_005272257.1:p.Ser18Leu
XM_011518705.1:c.167C>T XP_011517007.1:p.Ser56Leu
XM_005272200.3:c.53C>T XP_005272257.1:p.Ser18Leu
XM_011518705.2:c.167C>T XP_011517007.1:p.Ser56Leu
XM_017014729.1:c.149C>T XP_016870218.1:p.Ser50Leu
NM_054012.4:c.53C>T VV MANE Preferred NP_446464.1:p.Ser18Leu
ENST00000352480.9:c.53C>T ENSP00000253004.6:p.Ser18Leu
ENST00000372393.7:c.53C>T ENSP00000361469.2:p.Ser18Leu
ENST00000372394.5:c.53C>T ENSP00000361471.1:p.Ser18Leu
ENST00000422569.5:c.53C>T ENSP00000394212.1:p.Ser18Leu
ENST00000443588.1:c.53C>T ENSP00000397785.1:p.Ser18Leu