LDH info

Canonical Allele Identifier: CA16041430
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370094
ClinVar RCV Id: RCV000411013
dbSNP Id: rs1057516229

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108347367T>C , CM000673.2:g.108347367T>C GRCh38
NC_000011.9:g.108218094T>C , CM000673.1:g.108218094T>C GRCh37
NC_000011.8:g.107723304T>C NCBI36
NG_009830.1:g.129536T>C , LRG_135:g.129536T>C
NG_054724.1:g.127466A>G

Transcript Alleles

HGVS Amino-acid change
NM_000051.3:c.8671+2T>C , LRG_135t1:c.8671+2T>C (ATM) NP_000042.3:p.=
XM_005271414.3:c.788-12075A>G (C11orf65) XP_005271471.1:p.=
XM_005271415.3:c.732-12075A>G (C11orf65) XP_005271472.1:p.=
XM_005271561.3:c.8671+2T>C (ATM) XP_005271618.2:p.=
XM_005271562.3:c.8671+2T>C (ATM) XP_005271619.2:p.=
XM_006718843.2:c.8671+2T>C (ATM) XP_006718906.1:p.=
XM_006718845.1:c.4627+2T>C (ATM) XP_006718908.1:p.=
XM_011542640.1:c.788-7003A>G (C11orf65) XP_011540942.1:p.=
XM_011542643.1:c.732-7003A>G (C11orf65) XP_011540945.1:p.=
XM_011542840.1:c.8671+2T>C (ATM) XP_011541142.1:p.=
XM_011542841.1:c.8671+2T>C (ATM) XP_011541143.1:p.=
XM_011542842.1:c.8506+2T>C (ATM) XP_011541144.1:p.=
XM_011542843.1:c.8671+2T>C (ATM) XP_011541145.1:p.=
XM_011542844.1:c.7627+2T>C (ATM) XP_011541146.1:p.=
XM_011542845.1:c.7363+2T>C (ATM) XP_011541147.1:p.=
XM_011542847.1:c.3742+2T>C (ATM) XP_011541149.1:p.=
NM_001330368.1:c.641-38296A>G (C11orf65) VV NP_001317297.1:p.=
NM_001351110.1:c.695-12075A>G (C11orf65) VV NP_001338039.1:p.=
NM_001351834.1:c.8671+2T>C (ATM) VV NP_001338763.1:p.=
NR_147053.2:n.2301+7548A>G (C11orf65)
XM_005271414.4:c.788-12075A>G (C11orf65) XP_005271471.1:p.=
XM_005271415.4:c.732-12075A>G (C11orf65) XP_005271472.1:p.=
XM_005271562.5:c.8671+2T>C (ATM) XP_005271619.2:p.=
XM_006718843.4:c.8671+2T>C (ATM) XP_006718906.1:p.=
XM_006718845.2:c.4627+2T>C (ATM) XP_006718908.1:p.=
XM_011542640.2:c.788-7003A>G (C11orf65) XP_011540942.1:p.=
XM_011542643.2:c.732-7003A>G (C11orf65) XP_011540945.1:p.=
XM_011542840.3:c.8671+2T>C (ATM) XP_011541142.1:p.=
XM_011542842.3:c.8506+2T>C (ATM) XP_011541144.1:p.=
XM_011542843.2:c.8671+2T>C (ATM) XP_011541145.1:p.=
XM_011542844.3:c.7627+2T>C (ATM) XP_011541146.1:p.=
XM_011542845.2:c.7363+2T>C (ATM) XP_011541147.1:p.=
XM_017017247.1:c.904-7003A>G (C11orf65) XP_016872736.1:p.=
XM_017017789.2:c.8671+2T>C (ATM) XP_016873278.1:p.=
XM_017017790.2:c.8671+2T>C (ATM) XP_016873279.1:p.=
NM_001330368.2:c.641-38296A>G (C11orf65) VV NP_001317297.1:p.=
NM_001351110.2:c.695-12075A>G (C11orf65) VV NP_001338039.1:p.=
NM_001351834.2:c.8671+2T>C (ATM) VV NP_001338763.1:p.=
ENST00000278616.8:c.8671+2T>C ENSP00000278616.4:p.=
ENST00000452508.6:c.8671+2T>C ENSP00000388058.2:p.=
ENST00000524755.5:n.227-12075A>G
ENST00000524792.5:n.4886+2T>C
ENST00000525178.5:n.159+2T>C
ENST00000525729.5:c.641-38296A>G ENSP00000433395.1:p.=
ENST00000526725.1:n.272-7003A>G
ENST00000527531.5:c.*1196+7548A>G ENSP00000431706.1:p.=
ENST00000615746.4:c.*1196+7548A>G ENSP00000483537.1:p.=