Canonical Allele Identifier: CA2675086713
Gene: MEGF10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2723308
ClinVar RCV Id: RCV003529201

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.127339237G>A , CM000667.2:g.127339237G>A GRCh38
NC_000005.9:g.126674929G>A , CM000667.1:g.126674929G>A GRCh37
NC_000005.8:g.126702828G>A NCBI36
NG_032072.1:g.53474G>A
NG_032072.2:g.53474G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000503335.7:c.218+16G>A MANE Select ENSP00000423354.2:n.218+16G>A
ENST00000274473.6:c.218+16G>A ENSP00000274473.6:n.218+16G>A
ENST00000418761.6:c.218+16G>A ENSP00000416284.2:n.218+16G>A
ENST00000503335.6:c.218+16G>A ENSP00000423354.2:n.218+16G>A
ENST00000508365.5:c.218+16G>A ENSP00000423195.1:n.218+16G>A
NM_001256545.1:c.218+16G>A NP_001243474.1:n.218+16G>A
NM_001308119.1:c.218+16G>A NP_001295048.1:n.218+16G>A
NM_001308121.1:c.218+16G>A NP_001295050.1:n.218+16G>A
NM_032446.2:c.218+16G>A NP_115822.1:n.218+16G>A
XM_011543692.1:c.218+16G>A XP_011541994.1:n.218+16G>A
XM_011543693.1:c.218+16G>A XP_011541995.1:n.218+16G>A
XM_011543694.1:c.218+16G>A XP_011541996.1:n.218+16G>A
XM_017009987.1:c.383+16G>A XP_016865476.1:n.383+16G>A
NM_001256545.2:c.218+16G>A MANE Select NP_001243474.1:n.218+16G>A
NM_032446.3:c.218+16G>A NP_115822.1:n.218+16G>A
NM_001308119.2:c.218+16G>A NP_001295048.1:n.218+16G>A
NM_001308121.2:c.218+16G>A NP_001295050.1:n.218+16G>A