LDH info

Canonical Allele Identifier: CA016622
Gene: SDHD HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6907
dbSNP Id: rs80338847

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112094906T>C , CM000673.2:g.112094906T>C GRCh38
NC_000011.9:g.111965630T>C , CM000673.1:g.111965630T>C GRCh37
NC_000011.8:g.111470840T>C NCBI36
NG_012337.2:g.13060T>C
NG_012337.3:g.13060T>C

Transcript Alleles

HGVS Amino-acid change
NM_001276503.1:c.*13T>C VV NP_001263432.1:p.=
NM_001276504.1:c.299T>C VV NP_001263433.1:p.Leu100Pro
NM_001276506.1:c.*114T>C VV NP_001263435.1:p.=
NM_003002.3:c.416T>C VV NP_002993.1:p.Leu139Pro
NR_077060.1:n.554T>C
NM_003002.4:c.416T>C VV MANE Preferred NP_002993.1:p.Leu139Pro
ENST00000375549.7:c.416T>C ENSP00000364699.3:p.Leu139Pro
ENST00000525291.5:c.299T>C ENSP00000436669.1:p.Leu100Pro
ENST00000525987.5:n.319+5895T>C
ENST00000526592.5:c.*114T>C ENSP00000432005.1:p.=
ENST00000528021.5:c.314+5895T>C ENSP00000432465.1:p.=
ENST00000528048.5:c.*13T>C ENSP00000436217.1:p.=
ENST00000528182.5:c.*13T>C ENSP00000435475.1:p.=
ENST00000530923.5:n.460T>C
ENST00000531744.5:c.314+5895T>C ENSP00000456957.1:p.=
ENST00000532699.1:c.314+5895T>C ENSP00000456434.1:p.=
ENST00000534010.1:n.145+5895T>C