Canonical Allele Identifier: CA355824948

Gene: TMEM44

Linked Data

• dbSNP Id: rs2109171287
• gnomAD v4: 3-194604381-T-C
• MyVariant Identifiers: chr3:g.194325110T>C (hg19) ; chr3:g.194604381T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604381T>C , CM000665.2:g.194604381T>C	GRCh38
NC_000003.11:g.194325110T>C , CM000665.1:g.194325110T>C	GRCh37
NC_000003.10:g.195806399T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1082A>G MANE Select	ENSP00000333355.6:p.Gln361Arg
ENST00000347147.8:c.1082A>G	ENSP00000333355.6:p.Gln361Arg
ENST00000381975.7:c.1078A>G	ENSP00000371402.3:p.Arg360Gly
ENST00000392432.6:c.1223A>G	ENSP00000376227.2:p.Gln408Arg
ENST00000419280.5:c.*378A>G	ENSP00000414077.1:n.*378A>G
ENST00000429560.1:c.274A>G	ENSP00000403053.1:p.Arg92Gly
ENST00000432352.5:c.356A>G	ENSP00000409963.1:p.Gln119Arg
ENST00000452358.5:c.581A>G	ENSP00000414333.1:p.Gln194Arg
ENST00000467284.1:n.128A>G
ENST00000473092.5:c.1082A>G	ENSP00000418674.1:p.Gln361Arg
ENST00000477651.5:n.846A>G
NM_001011655.2:c.1082A>G	NP_001011655.1:p.Gln361Arg
NM_001166305.1:c.1223A>G	NP_001159777.1:p.Gln408Arg
NM_001166306.1:c.1078A>G	NP_001159778.1:p.Arg360Gly
NM_138399.4:c.1082A>G	NP_612408.3:p.Gln361Arg
XM_005269371.3:c.1082A>G	XP_005269428.1:p.Gln361Arg
XM_011513318.1:c.1232A>G	XP_011511620.1:p.Gln411Arg
XM_011513319.1:c.1169A>G	XP_011511621.1:p.Gln390Arg
XM_011513320.1:c.1280A>G	XP_011511622.1:p.Gln427Arg
XM_011513321.1:c.1148A>G	XP_011511623.1:p.Gln383Arg
XM_011513322.1:c.1139A>G	XP_011511624.1:p.Gln380Arg
XM_011513323.1:c.977A>G	XP_011511625.1:p.Gln326Arg
XM_005269371.4:c.1082A>G	XP_005269428.1:p.Gln361Arg
XM_011513318.2:c.1232A>G	XP_011511620.1:p.Gln411Arg
XM_011513319.2:c.1169A>G	XP_011511621.1:p.Gln390Arg
XM_011513320.2:c.1280A>G	XP_011511622.1:p.Gln427Arg
XM_011513321.2:c.1148A>G	XP_011511623.1:p.Gln383Arg
XM_011513322.2:c.1139A>G	XP_011511624.1:p.Gln380Arg
XM_017007517.1:c.1091A>G	XP_016863006.1:p.Gln364Arg
XM_017007518.1:c.1091A>G	XP_016863007.1:p.Gln364Arg
NM_001011655.3:c.1082A>G MANE Select	NP_001011655.1:p.Gln361Arg
NM_001166305.2:c.1223A>G	NP_001159777.1:p.Gln408Arg
NM_001166306.2:c.1078A>G	NP_001159778.1:p.Arg360Gly
NM_138399.5:c.1082A>G	NP_612408.3:p.Gln361Arg