LDH info

Canonical Allele Identifier: CA212943
Gene: SURF1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12770
dbSNP Id: rs782316919

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133351974_133351975del , CM000671.2:g.133351974_133351975del GRCh38
NC_000009.10:g.135208650_135208651del NCBI36
NG_008477.1:g.9536_9537del

Transcript Alleles

HGVS Amino-acid change
NM_001280787.1:c.518_519del VV NP_001267716.1:p.Ser173CysfsTer9
NM_003172.3:c.845_846del VV NP_003163.1:p.Ser282CysfsTer9
XM_011518942.1:c.518_519del XP_011517244.1:p.Ser173CysfsTer9
NM_003172.4:c.845_846del VV MANE Preferred NP_003163.1:p.Ser282CysfsTer9
ENST00000371974.7:c.845_846del ENSP00000361042.3:p.Ser282CysfsTer9
ENST00000437995.1:n.755_756del
ENST00000495952.5:n.835_836del
ENST00000615505.4:c.518_519del ENSP00000482067.1:p.Ser173CysfsTer9