LDH info

Canonical Allele Identifier: CA16041872
Gene: ACADVL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370480
ClinVar RCV Id: RCV000412097
dbSNP Id: rs1057516519

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223823G>A , CM000679.2:g.7223823G>A GRCh38
NC_000017.10:g.7127142G>A , CM000679.1:g.7127142G>A GRCh37
NC_000017.9:g.7067866G>A NCBI36
NG_007975.1:g.8990G>A
NG_008391.2:g.1228C>T
NG_033038.1:g.15722C>T

Transcript Alleles

HGVS Amino-acid change
NM_000018.3:c.1280G>A VV NP_000009.1:p.Trp427Ter
NM_001033859.2:c.1214G>A VV NP_001029031.1:p.Trp405Ter
NM_001270447.1:c.1349G>A VV NP_001257376.1:p.Trp450Ter
NM_001270448.1:c.1052G>A VV NP_001257377.1:p.Trp351Ter
XM_006721516.2:c.1280G>A XP_006721579.2:p.Trp427Ter
XM_011523829.1:c.1280G>A XP_011522131.1:p.Trp427Ter
XM_011523830.1:c.1280G>A XP_011522132.1:p.Trp427Ter
XR_934021.1:n.1387G>A
XR_934022.1:n.1387G>A
XR_934023.1:n.1387G>A
XM_006721516.3:c.1280G>A XP_006721579.2:p.Trp427Ter
XM_011523829.2:c.1280G>A XP_011522131.1:p.Trp427Ter
XM_011523830.2:c.1280G>A XP_011522132.1:p.Trp427Ter
XM_024450741.1:c.1280G>A XP_024306509.1:p.Trp427Ter
XR_934021.2:n.1339G>A
XR_934022.2:n.1339G>A
XR_934023.2:n.1339G>A
NM_000018.4:c.1280G>A VV MANE Preferred NP_000009.1:p.Trp427Ter
ENST00000322910.9:c.*1235G>A ENSP00000325395.5:p.=
ENST00000350303.9:c.1214G>A ENSP00000344152.5:p.Trp405Ter
ENST00000356839.9:c.1280G>A ENSP00000349297.5:p.Trp427Ter
ENST00000542255.6:n.138G>A
ENST00000543245.6:c.1349G>A ENSP00000438689.2:p.Trp450Ter
ENST00000578579.2:n.451G>A
ENST00000578711.1:n.319G>A
ENST00000578824.5:n.696G>A
ENST00000579425.5:n.304G>A
ENST00000579546.1:n.117G>A
ENST00000583850.5:n.55G>A
ENST00000583858.5:n.309G>A
ENST00000585203.6:n.488G>A