LDH info

Canonical Allele Identifier: CA9821059
Gene: AHCY HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 235681
ClinVar RCV Id: RCV000223995
dbSNP Id: rs757966746

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34294083G>A , CM000682.2:g.34294083G>A GRCh38
NC_000020.10:g.32881889G>A , CM000682.1:g.32881889G>A GRCh37
NC_000020.9:g.32345550G>A NCBI36
NG_012630.1:g.22720C>T
NG_012630.2:g.22720C>T

Transcript Alleles

HGVS Amino-acid change
NM_000687.2:c.293C>T VV NP_000678.1:p.Pro98Leu
NM_001161766.1:c.209C>T VV NP_001155238.1:p.Pro70Leu
XM_005260316.3:c.209C>T XP_005260373.1:p.Pro70Leu
XM_005260317.1:c.209C>T XP_005260374.1:p.Pro70Leu
XM_011528656.1:c.209C>T XP_011526958.1:p.Pro70Leu
XM_011528657.1:c.209C>T XP_011526959.1:p.Pro70Leu
XM_011528658.1:c.209C>T XP_011526960.1:p.Pro70Leu
XM_011528659.1:c.209C>T XP_011526961.1:p.Pro70Leu
XM_011528660.1:c.209C>T XP_011526962.1:p.Pro70Leu
NM_000687.3:c.293C>T VV NP_000678.1:p.Pro98Leu
NM_001322084.1:c.209C>T VV NP_001309013.1:p.Pro70Leu
NM_001322085.1:c.209C>T VV NP_001309014.1:p.Pro70Leu
NM_001322086.1:c.299C>T VV NP_001309015.1:p.Pro100Leu
NM_001362750.1:c.293C>T VV NP_001349679.1:p.Pro98Leu
XM_005260317.2:c.209C>T XP_005260374.1:p.Pro70Leu
XM_011528656.3:c.299C>T XP_011526958.2:p.Pro100Leu
XM_011528657.2:c.299C>T XP_011526959.2:p.Pro100Leu
XM_011528658.3:c.299C>T XP_011526960.2:p.Pro100Leu
XM_017027709.2:c.293C>T XP_016883198.1:p.Pro98Leu
XM_017027710.2:c.-132C>T XP_016883199.1:p.=
NM_000687.4:c.293C>T VV MANE Preferred NP_000678.1:p.Pro98Leu
ENST00000217426.6:c.293C>T ENSP00000217426.2:p.Pro98Leu
ENST00000468908.1:n.456C>T
ENST00000480653.5:n.340C>T
ENST00000538132.1:c.209C>T ENSP00000442820.1:p.Pro70Leu
ENST00000606061.1:n.553C>T