LDH info

Canonical Allele Identifier: CA196923
Gene: MRE11A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 187174
ClinVar RCV Id: RCV000166874
dbSNP Id: rs745677716

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94445808A>G , CM000673.2:g.94445808A>G GRCh38
NC_000011.9:g.94178974A>G , CM000673.1:g.94178974A>G GRCh37
NC_000011.8:g.93818622A>G NCBI36
NG_007261.1:g.53067T>C , LRG_85:g.53067T>C

Transcript Alleles

HGVS Amino-acid change
NM_005590.3:c.1783+1411T>C VV NP_005581.2:p.=
NM_005591.3:c.1867+2T>C , LRG_85t1:c.1867+2T>C NP_005582.1:p.=
XM_005274008.2:c.1399+2T>C XP_005274065.1:p.=
XM_006718842.2:c.1864+2T>C XP_006718905.1:p.=
XM_011542837.1:c.1867+2T>C XP_011541139.1:p.=
XR_947828.1:n.2163+2T>C
NM_001330347.1:c.1864+2T>C VV NP_001317276.1:p.=
XM_005274008.3:c.1399+2T>C XP_005274065.1:p.=
XM_006718842.3:c.1864+2T>C XP_006718905.1:p.=
XM_011542837.2:c.1867+2T>C XP_011541139.1:p.=
XM_017017772.1:c.1867+2T>C XP_016873261.1:p.=
XR_947828.2:n.2163+2T>C
NM_001330347.2:c.1864+2T>C VV NP_001317276.1:p.=
NM_005590.4:c.1783+1411T>C VV NP_005581.2:p.=
NM_005591.4:c.1867+2T>C VV MANE Preferred NP_005582.1:p.=
ENST00000323929.7:c.1867+2T>C ENSP00000325863.3:p.=
ENST00000323977.7:c.1783+1411T>C ENSP00000326094.3:p.=
ENST00000393241.8:c.1864+2T>C ENSP00000376933.4:p.=
ENST00000407439.7:c.1876+2T>C ENSP00000385614.3:p.=
ENST00000535120.1:n.165T>C