Canonical Allele Identifier: CA3391619

Gene: MEGF10

Linked Data

• dbSNP Id: rs758644802
• ExAC: 5:126755894 T / G
• gnomAD v2: 5-126755894-T-G
• gnomAD v4: 5-127420202-T-G
• MyVariant Identifiers: chr5:g.126755894T>G (hg19) ; chr5:g.127420202T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.127420202T>G , CM000667.2:g.127420202T>G	GRCh38
NC_000005.9:g.126755894T>G , CM000667.1:g.126755894T>G	GRCh37
NC_000005.8:g.126783793T>G	NCBI36
NG_032072.1:g.134439T>G
NG_032072.2:g.134439T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503335.7:c.1585T>G MANE Select	ENSP00000423354.2:p.Cys529Gly
ENST00000274473.6:c.1585T>G	ENSP00000274473.6:p.Cys529Gly
ENST00000418761.6:c.1585T>G	ENSP00000416284.2:p.Cys529Gly
ENST00000503335.6:c.1585T>G	ENSP00000423354.2:p.Cys529Gly
ENST00000508365.5:c.1585T>G	ENSP00000423195.1:p.Cys529Gly
NM_001256545.1:c.1585T>G	NP_001243474.1:p.Cys529Gly
NM_001308119.1:c.1585T>G	NP_001295048.1:p.Cys529Gly
NM_001308121.1:c.1585T>G	NP_001295050.1:p.Cys529Gly
NM_032446.2:c.1585T>G	NP_115822.1:p.Cys529Gly
XM_011543692.1:c.1585T>G	XP_011541994.1:p.Cys529Gly
XM_011543693.1:c.1585T>G	XP_011541995.1:p.Cys529Gly
XM_011543694.1:c.1585T>G	XP_011541996.1:p.Cys529Gly
XM_017009987.1:c.1750T>G	XP_016865476.1:p.Cys584Gly
XM_017009988.1:c.445T>G	XP_016865477.1:p.Cys149Gly
NM_001256545.2:c.1585T>G MANE Select	NP_001243474.1:p.Cys529Gly
NM_032446.3:c.1585T>G	NP_115822.1:p.Cys529Gly
NM_001308119.2:c.1585T>G	NP_001295048.1:p.Cys529Gly
NM_001308121.2:c.1585T>G	NP_001295050.1:p.Cys529Gly