LDH info

Canonical Allele Identifier: CA214715
Gene: TBC1D4 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 130549
ClinVar RCV Id: RCV000118589
dbSNP Id: rs1062087

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.75310080C>T , CM000675.2:g.75310080C>T GRCh38
NC_000013.10:g.75884216C>T , CM000675.1:g.75884216C>T GRCh37
NC_000013.9:g.74782217C>T NCBI36
NG_042850.1:g.177089G>A

Transcript Alleles

HGVS Amino-acid change
NM_001286658.1:c.2431G>A VV NP_001273587.1:p.Val811Ile
NM_001286658.2:c.2431G>A VV NP_001273587.1:p.Val811Ile
NM_001286659.1:c.2266G>A VV NP_001273588.1:p.Val756Ile
NM_001286659.2:c.2266G>A VV NP_001273588.1:p.Val756Ile
NM_014832.3:c.2455G>A VV NP_055647.2:p.Val819Ile
NM_014832.4:c.2455G>A VV NP_055647.2:p.Val819Ile
XM_005266603.1:c.2380G>A XP_005266660.1:p.Val794Ile
XM_005266605.1:c.1912G>A XP_005266662.1:p.Val638Ile
XM_006719903.2:c.1981G>A XP_006719966.1:p.Val661Ile
XM_011535331.1:c.2344G>A XP_011533633.1:p.Val782Ile
XM_005266603.2:c.2380G>A XP_005266660.1:p.Val794Ile
XM_005266605.3:c.1912G>A XP_005266662.1:p.Val638Ile
XM_006719903.3:c.1981G>A XP_006719966.1:p.Val661Ile
XM_011535331.2:c.2344G>A XP_011533633.1:p.Val782Ile
XM_017020882.2:c.1723G>A XP_016876371.1:p.Val575Ile
XM_017020883.2:c.1612G>A XP_016876372.1:p.Val538Ile
XM_017020884.2:c.22G>A XP_016876373.1:p.Val8Ile
NM_014832.5:c.2455G>A VV MANE Preferred NP_055647.2:p.Val819Ile
ENST00000377625.6:c.2266G>A ENSP00000366852.2:p.Val756Ile
ENST00000377636.7:c.2455G>A ENSP00000366863.3:p.Val819Ile
ENST00000413735.1:n.802G>A ENSP00000396932.1:p.Val268Ile
ENST00000431480.6:c.2431G>A ENSP00000395986.2:p.Val811Ile
ENST00000493487.1:n.314G>A