LDH info

Canonical Allele Identifier: CA8314523
Gene: CHRNE HGNC NCBI
C17orf107 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 534249
ClinVar RCV Id: RCV000641732
dbSNP Id: rs28929768

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4902268A>G , CM000679.2:g.4902268A>G GRCh38
NC_000017.10:g.4805563A>G , CM000679.1:g.4805563A>G GRCh37
NC_000017.9:g.4746342A>G NCBI36
NG_008029.2:g.5808T>C

Transcript Alleles

HGVS Amino-acid change
NM_000080.3:c.293T>C (CHRNE) VV NP_000071.1:p.Leu98Pro
NM_001145536.1:c.*1735A>G (C17orf107) VV NP_001139008.1:p.=
XM_011523612.1:c.546+1762A>G (C17orf107) XP_011521914.1:p.=
XM_011523631.1:c.293T>C (CHRNE) XP_011521933.1:p.Leu98Pro
NM_000080.4:c.293T>C (CHRNE) VV NP_000071.1:p.Leu98Pro
XM_017024115.1:c.257T>C (CHRNE) XP_016879604.1:p.Leu86Pro
XR_001752421.1:n.1138T>C (CHRNE)
NM_001145536.2:c.*1735A>G (C17orf107) VV NP_001139008.1:p.=
ENST00000293780.4:c.293T>C ENSP00000293780.4:p.Leu98Pro
ENST00000381365.3:c.*1735A>G ENSP00000370770.3:p.=
ENST00000575637.1:n.114T>C