LDH info

Canonical Allele Identifier: CA16042597
Gene: AUTS2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372310
ClinVar RCV Id: RCV000413202
dbSNP Id: rs1057517708

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70766128C>T , CM000669.2:g.70766128C>T GRCh38
NC_000007.13:g.70231114C>T , CM000669.1:g.70231114C>T GRCh37
NC_000007.12:g.69869050C>T NCBI36
NG_034133.1:g.1172210C>T

Transcript Alleles

HGVS Amino-acid change
NM_001127231.2:c.1483C>T VV NP_001120703.1:p.Arg495Ter
NM_015570.3:c.1483C>T VV NP_056385.1:p.Arg495Ter
XM_005250257.1:c.109C>T XP_005250314.1:p.Arg37Ter
XM_011516010.1:c.1483C>T XP_011514312.1:p.Arg495Ter
XM_011516011.1:c.1480C>T XP_011514313.1:p.Arg494Ter
XM_011516012.1:c.1483C>T XP_011514314.1:p.Arg495Ter
XM_011516013.1:c.1483C>T XP_011514315.1:p.Arg495Ter
XM_011516014.1:c.1483C>T XP_011514316.1:p.Arg495Ter
XM_011516015.1:c.1483C>T XP_011514317.1:p.Arg495Ter
XM_011516016.1:c.1192C>T XP_011514318.1:p.Arg398Ter
XM_011516017.1:c.1009C>T XP_011514319.1:p.Arg337Ter
XM_011516018.1:c.982C>T XP_011514320.1:p.Arg328Ter
XM_005250257.2:c.109C>T XP_005250314.1:p.Arg37Ter
XM_011516010.2:c.1483C>T XP_011514312.1:p.Arg495Ter
XM_011516011.2:c.1480C>T XP_011514313.1:p.Arg494Ter
XM_011516012.2:c.1483C>T XP_011514314.1:p.Arg495Ter
XM_011516013.2:c.1483C>T XP_011514315.1:p.Arg495Ter
XM_011516014.2:c.1483C>T XP_011514316.1:p.Arg495Ter
XM_011516017.2:c.1009C>T XP_011514319.1:p.Arg337Ter
XM_011516018.2:c.982C>T XP_011514320.1:p.Arg328Ter
XM_017011951.2:c.1483C>T XP_016867440.1:p.Arg495Ter
ENST00000342771.8:c.1483C>T ENSP00000344087.4:p.Arg495Ter
ENST00000406775.6:c.1483C>T ENSP00000385263.2:p.Arg495Ter
ENST00000443672.1:n.108C>T
ENST00000481994.1:n.90C>T
ENST00000611706.4:c.739C>T ENSP00000478134.1:p.Arg247Ter
ENST00000615871.4:c.739C>T ENSP00000479325.1:p.Arg247Ter