Canonical Allele Identifier: CA6235196
Gene: MRE11A HGNC NCBI
MIR548L HGNC NCBI

Linked Data

dbSNP Id: rs11020790

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94466544C>T , CM000673.2:g.94466544C>T GRCh38
NC_000011.9:g.94199710C>T , CM000673.1:g.94199710C>T GRCh37
NC_000011.8:g.93839358C>T NCBI36
NG_007261.1:g.32331G>A , LRG_85:g.32331G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000323929.8:c.1098+1269G>A MANE Select ENSP00000325863.4:p.=
ENST00000323929.7:c.1098+1269G>A ENSP00000325863.3:p.=
ENST00000323977.7:c.1098+1269G>A ENSP00000326094.3:p.=
ENST00000393241.8:c.1098+1269G>A ENSP00000376933.4:p.=
ENST00000407439.7:c.1107+1269G>A ENSP00000385614.3:p.=
NM_005590.3:c.1098+1269G>A (MRE11A) NP_005581.2:p.=
NM_005591.3:c.1098+1269G>A , LRG_85t1:c.1098+1269G>A (MRE11A) NP_005582.1:p.=
NR_031630.1:n.37G>A (MIR548L)
XM_005274008.2:c.630+1269G>A (MRE11A) XP_005274065.1:p.=
XM_006718842.2:c.1098+1269G>A (MRE11A) XP_006718905.1:p.=
XM_011542837.1:c.1098+1269G>A (MRE11A) XP_011541139.1:p.=
XR_947828.1:n.1394+1269G>A (MRE11A)
NM_001330347.1:c.1098+1269G>A (MRE11A) NP_001317276.1:p.=
XM_005274008.3:c.630+1269G>A (MRE11A) XP_005274065.1:p.=
XM_006718842.3:c.1098+1269G>A (MRE11A) XP_006718905.1:p.=
XM_011542837.2:c.1098+1269G>A (MRE11A) XP_011541139.1:p.=
XM_017017772.1:c.1098+1269G>A (MRE11A) XP_016873261.1:p.=
XR_947828.2:n.1394+1269G>A (MRE11A)
NM_001330347.2:c.1098+1269G>A (MRE11A) NP_001317276.1:p.=
NM_005590.4:c.1098+1269G>A (MRE11A) NP_005581.2:p.=
NM_005591.4:c.1098+1269G>A (MRE11A) MANE Select NP_005582.1:p.=