Canonical Allele Identifier: CA126949141

Gene: MEGF10

Linked Data

• dbSNP Id: rs762886928
• gnomAD v4: 5-127420071-G-A
• MyVariant Identifiers: chr5:g.126755763G>A (hg19) ; chr5:g.127420071G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.127420071G>A , CM000667.2:g.127420071G>A	GRCh38
NC_000005.9:g.126755763G>A , CM000667.1:g.126755763G>A	GRCh37
NC_000005.8:g.126783662G>A	NCBI36
NG_032072.1:g.134308G>A
NG_032072.2:g.134308G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503335.7:c.1454G>A MANE Select	ENSP00000423354.2:p.Arg485Lys
ENST00000274473.6:c.1454G>A	ENSP00000274473.6:p.Arg485Lys
ENST00000418761.6:c.1454G>A	ENSP00000416284.2:p.Arg485Lys
ENST00000503335.6:c.1454G>A	ENSP00000423354.2:p.Arg485Lys
ENST00000508365.5:c.1454G>A	ENSP00000423195.1:p.Arg485Lys
NM_001256545.1:c.1454G>A	NP_001243474.1:p.Arg485Lys
NM_001308119.1:c.1454G>A	NP_001295048.1:p.Arg485Lys
NM_001308121.1:c.1454G>A	NP_001295050.1:p.Arg485Lys
NM_032446.2:c.1454G>A	NP_115822.1:p.Arg485Lys
XM_011543692.1:c.1454G>A	XP_011541994.1:p.Arg485Lys
XM_011543693.1:c.1454G>A	XP_011541995.1:p.Arg485Lys
XM_011543694.1:c.1454G>A	XP_011541996.1:p.Arg485Lys
XM_017009987.1:c.1619G>A	XP_016865476.1:p.Arg540Lys
XM_017009988.1:c.314G>A	XP_016865477.1:p.Arg105Lys
NM_001256545.2:c.1454G>A MANE Select	NP_001243474.1:p.Arg485Lys
NM_032446.3:c.1454G>A	NP_115822.1:p.Arg485Lys
NM_001308119.2:c.1454G>A	NP_001295048.1:p.Arg485Lys
NM_001308121.2:c.1454G>A	NP_001295050.1:p.Arg485Lys