Canonical Allele Identifier: CA2762532

Gene: TMEM44

Linked Data

• dbSNP Id: rs200954954
• ExAC: 3:194325075 G / A
• gnomAD v2: 3-194325075-G-A
• gnomAD v3: 3-194604346-G-A
• gnomAD v4: 3-194604346-G-A
• MyVariant Identifiers: chr3:g.194325075G>A (hg19) ; chr3:g.194604346G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604346G>A , CM000665.2:g.194604346G>A	GRCh38
NC_000003.11:g.194325075G>A , CM000665.1:g.194325075G>A	GRCh37
NC_000003.10:g.195806364G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1117C>T MANE Select	ENSP00000333355.6:p.Arg373Trp
ENST00000347147.8:c.1117C>T	ENSP00000333355.6:p.Arg373Trp
ENST00000381975.7:c.1113C>T	ENSP00000371402.3:p.Ser371=
ENST00000392432.6:c.1258C>T	ENSP00000376227.2:p.Arg420Trp
ENST00000419280.5:c.*413C>T	ENSP00000414077.1:n.*413C>T
ENST00000429560.1:c.309C>T	ENSP00000403053.1:p.Ser103=
ENST00000432352.5:c.391C>T	ENSP00000409963.1:p.Arg131Trp
ENST00000452358.5:c.616C>T	ENSP00000414333.1:p.Arg206Trp
ENST00000467284.1:n.163C>T
ENST00000473092.5:c.1117C>T	ENSP00000418674.1:p.Arg373Trp
ENST00000477651.5:n.881C>T
NM_001011655.2:c.1117C>T	NP_001011655.1:p.Arg373Trp
NM_001166305.1:c.1258C>T	NP_001159777.1:p.Arg420Trp
NM_001166306.1:c.1113C>T	NP_001159778.1:p.Ser371=
NM_138399.4:c.1117C>T	NP_612408.3:p.Arg373Trp
XM_005269371.3:c.1117C>T	XP_005269428.1:p.Arg373Trp
XM_011513318.1:c.1267C>T	XP_011511620.1:p.Arg423Trp
XM_011513319.1:c.1204C>T	XP_011511621.1:p.Arg402Trp
XM_011513320.1:c.1315C>T	XP_011511622.1:p.Arg439Trp
XM_011513321.1:c.1183C>T	XP_011511623.1:p.Arg395Trp
XM_011513322.1:c.1174C>T	XP_011511624.1:p.Arg392Trp
XM_011513323.1:c.1012C>T	XP_011511625.1:p.Arg338Trp
XM_005269371.4:c.1117C>T	XP_005269428.1:p.Arg373Trp
XM_011513318.2:c.1267C>T	XP_011511620.1:p.Arg423Trp
XM_011513319.2:c.1204C>T	XP_011511621.1:p.Arg402Trp
XM_011513320.2:c.1315C>T	XP_011511622.1:p.Arg439Trp
XM_011513321.2:c.1183C>T	XP_011511623.1:p.Arg395Trp
XM_011513322.2:c.1174C>T	XP_011511624.1:p.Arg392Trp
XM_017007517.1:c.1126C>T	XP_016863006.1:p.Arg376Trp
XM_017007518.1:c.1126C>T	XP_016863007.1:p.Arg376Trp
NM_001011655.3:c.1117C>T MANE Select	NP_001011655.1:p.Arg373Trp
NM_001166305.2:c.1258C>T	NP_001159777.1:p.Arg420Trp
NM_001166306.2:c.1113C>T	NP_001159778.1:p.Ser371=
NM_138399.5:c.1117C>T	NP_612408.3:p.Arg373Trp