Canonical Allele Identifier: CA360825091
Community Standard Title: NM_001256545.2(MEGF10):c.352T>C (p.Cys118Arg)
Gene: MEGF10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.127369942T>C , CM000667.2:g.127369942T>C GRCh38
NC_000005.9:g.126705634T>C , CM000667.1:g.126705634T>C GRCh37
NC_000005.8:g.126733533T>C NCBI36
NG_032072.1:g.84179T>C
NG_032072.2:g.84179T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001256545.2:c.352T>C MANE Select NP_001243474.1:p.Cys118Arg
ENST00000503335.7:c.352T>C MANE Select ENSP00000423354.2:p.Cys118Arg
NM_001256545.1:c.352T>C NP_001243474.1:p.Cys118Arg
NM_001308119.1:c.352T>C NP_001295048.1:p.Cys118Arg
NM_001308119.2:c.352T>C NP_001295048.1:p.Cys118Arg
NM_001308121.1:c.352T>C NP_001295050.1:p.Cys118Arg
NM_001308121.2:c.352T>C NP_001295050.1:p.Cys118Arg
NM_032446.2:c.352T>C NP_115822.1:p.Cys118Arg
NM_032446.3:c.352T>C NP_115822.1:p.Cys118Arg
ENST00000274473.6:c.352T>C ENSP00000274473.6:p.Cys118Arg
ENST00000418761.6:c.352T>C ENSP00000416284.2:p.Cys118Arg
ENST00000503335.6:c.352T>C ENSP00000423354.2:p.Cys118Arg
ENST00000508365.5:c.352T>C ENSP00000423195.1:p.Cys118Arg
XM_011543692.1:c.352T>C XP_011541994.1:p.Cys118Arg
XM_011543693.1:c.352T>C XP_011541995.1:p.Cys118Arg
XM_011543694.1:c.352T>C XP_011541996.1:p.Cys118Arg
XM_017009987.1:c.517T>C XP_016865476.1:p.Cys173Arg