LDH info

Canonical Allele Identifier: CA16041431
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370500
ClinVar RCV Id: RCV000410513
dbSNP Id: rs1057516537

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108365081G>T , CM000673.2:g.108365081G>T GRCh38
NC_000011.9:g.108235808G>T , CM000673.1:g.108235808G>T GRCh37
NC_000011.8:g.107741018G>T NCBI36
NG_009830.1:g.147250G>T , LRG_135:g.147250G>T
NG_054724.1:g.109752C>A

Transcript Alleles

HGVS Amino-acid change
NM_000051.3:c.8851-1G>T , LRG_135t1:c.8851-1G>T (ATM) NP_000042.3:p.=
XM_005271414.3:c.787+20839C>A (C11orf65) XP_005271471.1:p.=
XM_005271415.3:c.731+28127C>A (C11orf65) XP_005271472.1:p.=
XM_005271561.3:c.8851-1G>T (ATM) XP_005271618.2:p.=
XM_005271562.3:c.8851-1G>T (ATM) XP_005271619.2:p.=
XM_006718843.2:c.8851-1G>T (ATM) XP_006718906.1:p.=
XM_006718845.1:c.4807-1G>T (ATM) XP_006718908.1:p.=
XM_011542640.1:c.787+20839C>A (C11orf65) XP_011540942.1:p.=
XM_011542642.1:c.732-16008C>A (C11orf65) XP_011540944.1:p.=
XM_011542643.1:c.732-24717C>A (C11orf65) XP_011540945.1:p.=
XM_011542840.1:c.8851-1G>T (ATM) XP_011541142.1:p.=
XM_011542841.1:c.8851-1G>T (ATM) XP_011541143.1:p.=
XM_011542842.1:c.8686-1G>T (ATM) XP_011541144.1:p.=
XM_011542844.1:c.7807-1G>T (ATM) XP_011541146.1:p.=
XM_011542845.1:c.7543-1G>T (ATM) XP_011541147.1:p.=
XM_011542847.1:c.3922-1G>T (ATM) XP_011541149.1:p.=
NM_001330368.1:c.640+20839C>A (C11orf65) VV NP_001317297.1:p.=
NM_001351110.1:c.694+20839C>A (C11orf65) VV NP_001338039.1:p.=
NM_001351834.1:c.8851-1G>T (ATM) VV NP_001338763.1:p.=
NR_147053.2:n.1107-8972C>A (C11orf65)
XM_005271414.4:c.787+20839C>A (C11orf65) XP_005271471.1:p.=
XM_005271415.4:c.731+28127C>A (C11orf65) XP_005271472.1:p.=
XM_005271562.5:c.8851-1G>T (ATM) XP_005271619.2:p.=
XM_006718843.4:c.8851-1G>T (ATM) XP_006718906.1:p.=
XM_006718845.2:c.4807-1G>T (ATM) XP_006718908.1:p.=
XM_011542640.2:c.787+20839C>A (C11orf65) XP_011540942.1:p.=
XM_011542643.2:c.732-24717C>A (C11orf65) XP_011540945.1:p.=
XM_011542840.3:c.8851-1G>T (ATM) XP_011541142.1:p.=
XM_011542842.3:c.8686-1G>T (ATM) XP_011541144.1:p.=
XM_011542844.3:c.7807-1G>T (ATM) XP_011541146.1:p.=
XM_011542845.2:c.7543-1G>T (ATM) XP_011541147.1:p.=
XM_017017247.1:c.903+17979C>A (C11orf65) XP_016872736.1:p.=
XM_017017789.2:c.8851-1G>T (ATM) XP_016873278.1:p.=
XM_017017790.2:c.8851-1G>T (ATM) XP_016873279.1:p.=
NM_001330368.2:c.640+20839C>A (C11orf65) VV NP_001317297.1:p.=
NM_001351110.2:c.694+20839C>A (C11orf65) VV NP_001338039.1:p.=
NM_001351834.2:c.8851-1G>T (ATM) VV NP_001338763.1:p.=
ENST00000278616.8:c.8851-1G>T ENSP00000278616.4:p.=
ENST00000452508.6:c.8851-1G>T ENSP00000388058.2:p.=
ENST00000524755.5:n.226+28127C>A
ENST00000524792.5:n.5066-1G>T
ENST00000525178.5:n.339-1G>T
ENST00000525729.5:c.640+20839C>A ENSP00000433395.1:p.=
ENST00000526725.1:n.272-24717C>A
ENST00000527181.1:n.190-1G>T
ENST00000527531.5:c.*2-8972C>A ENSP00000431706.1:p.=
ENST00000615746.4:c.*2-8972C>A ENSP00000483537.1:p.=