Canonical Allele Identifier: CA446285647
Gene: MEGF10 HGNC NCBI

Linked Data

ClinVar Variation Id: 659521
ClinVar RCV Id: RCV000816545
dbSNP Id: rs1580847709
MyVariant Identifiers: chr5:g.126755776C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.127420084C>T , CM000667.2:g.127420084C>T GRCh38
NC_000005.9:g.126755776C>T , CM000667.1:g.126755776C>T GRCh37
NC_000005.8:g.126783675C>T NCBI36
NG_032072.1:g.134321C>T
NG_032072.2:g.134321C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000503335.7:c.1467C>T MANE Select ENSP00000423354.2:p.Gly489=
ENST00000274473.6:c.1467C>T ENSP00000274473.6:p.Gly489=
ENST00000418761.6:c.1467C>T ENSP00000416284.2:p.Gly489=
ENST00000503335.6:c.1467C>T ENSP00000423354.2:p.Gly489=
ENST00000508365.5:c.1467C>T ENSP00000423195.1:p.Gly489=
NM_001256545.1:c.1467C>T NP_001243474.1:p.Gly489=
NM_001308119.1:c.1467C>T NP_001295048.1:p.Gly489=
NM_001308121.1:c.1467C>T NP_001295050.1:p.Gly489=
NM_032446.2:c.1467C>T NP_115822.1:p.Gly489=
XM_011543692.1:c.1467C>T XP_011541994.1:p.Gly489=
XM_011543693.1:c.1467C>T XP_011541995.1:p.Gly489=
XM_011543694.1:c.1467C>T XP_011541996.1:p.Gly489=
XM_017009987.1:c.1632C>T XP_016865476.1:p.Gly544=
XM_017009988.1:c.327C>T XP_016865477.1:p.Gly109=
NM_001256545.2:c.1467C>T MANE Select NP_001243474.1:p.Gly489=
NM_032446.3:c.1467C>T NP_115822.1:p.Gly489=
NM_001308119.2:c.1467C>T NP_001295048.1:p.Gly489=
NM_001308121.2:c.1467C>T NP_001295050.1:p.Gly489=