Canonical Allele Identifier: CA90641380

Gene: TMEM44

Linked Data

• dbSNP Id: rs554986349
• gnomAD v2: 3-194325073-C-T
• gnomAD v3: 3-194604344-C-T
• gnomAD v4: 3-194604344-C-T
• MyVariant Identifiers: chr3:g.194325073C>T (hg19) ; chr3:g.194604344C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604344C>T , CM000665.2:g.194604344C>T	GRCh38
NC_000003.11:g.194325073C>T , CM000665.1:g.194325073C>T	GRCh37
NC_000003.10:g.195806362C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1119G>A MANE Select	ENSP00000333355.6:p.Arg373=
ENST00000347147.8:c.1119G>A	ENSP00000333355.6:p.Arg373=
ENST00000381975.7:c.1115G>A	ENSP00000371402.3:p.Gly372Glu
ENST00000392432.6:c.1260G>A	ENSP00000376227.2:p.Arg420=
ENST00000419280.5:c.*415G>A	ENSP00000414077.1:n.*415G>A
ENST00000429560.1:c.311G>A	ENSP00000403053.1:p.Gly104Glu
ENST00000432352.5:c.393G>A	ENSP00000409963.1:p.Arg131=
ENST00000452358.5:c.618G>A	ENSP00000414333.1:p.Arg206=
ENST00000467284.1:n.165G>A
ENST00000473092.5:c.1119G>A	ENSP00000418674.1:p.Arg373=
ENST00000477651.5:n.883G>A
NM_001011655.2:c.1119G>A	NP_001011655.1:p.Arg373=
NM_001166305.1:c.1260G>A	NP_001159777.1:p.Arg420=
NM_001166306.1:c.1115G>A	NP_001159778.1:p.Gly372Glu
NM_138399.4:c.1119G>A	NP_612408.3:p.Arg373=
XM_005269371.3:c.1119G>A	XP_005269428.1:p.Arg373=
XM_011513318.1:c.1269G>A	XP_011511620.1:p.Arg423=
XM_011513319.1:c.1206G>A	XP_011511621.1:p.Arg402=
XM_011513320.1:c.1317G>A	XP_011511622.1:p.Arg439=
XM_011513321.1:c.1185G>A	XP_011511623.1:p.Arg395=
XM_011513322.1:c.1176G>A	XP_011511624.1:p.Arg392=
XM_011513323.1:c.1014G>A	XP_011511625.1:p.Arg338=
XM_005269371.4:c.1119G>A	XP_005269428.1:p.Arg373=
XM_011513318.2:c.1269G>A	XP_011511620.1:p.Arg423=
XM_011513319.2:c.1206G>A	XP_011511621.1:p.Arg402=
XM_011513320.2:c.1317G>A	XP_011511622.1:p.Arg439=
XM_011513321.2:c.1185G>A	XP_011511623.1:p.Arg395=
XM_011513322.2:c.1176G>A	XP_011511624.1:p.Arg392=
XM_017007517.1:c.1128G>A	XP_016863006.1:p.Arg376=
XM_017007518.1:c.1128G>A	XP_016863007.1:p.Arg376=
NM_001011655.3:c.1119G>A MANE Select	NP_001011655.1:p.Arg373=
NM_001166305.2:c.1260G>A	NP_001159777.1:p.Arg420=
NM_001166306.2:c.1115G>A	NP_001159778.1:p.Gly372Glu
NM_138399.5:c.1119G>A	NP_612408.3:p.Arg373=