Canonical Allele Identifier: CA355824876

Gene: TMEM44

Linked Data

• gnomAD v4: 3-194604354-T-C
• MyVariant Identifiers: chr3:g.194325083T>C (hg19) ; chr3:g.194604354T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604354T>C , CM000665.2:g.194604354T>C	GRCh38
NC_000003.11:g.194325083T>C , CM000665.1:g.194325083T>C	GRCh37
NC_000003.10:g.195806372T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1109A>G MANE Select	ENSP00000333355.6:p.Gln370Arg
ENST00000347147.8:c.1109A>G	ENSP00000333355.6:p.Gln370Arg
ENST00000381975.7:c.1105A>G	ENSP00000371402.3:p.Arg369Gly
ENST00000392432.6:c.1250A>G	ENSP00000376227.2:p.Gln417Arg
ENST00000419280.5:c.*405A>G	ENSP00000414077.1:n.*405A>G
ENST00000429560.1:c.301A>G	ENSP00000403053.1:p.Arg101Gly
ENST00000432352.5:c.383A>G	ENSP00000409963.1:p.Gln128Arg
ENST00000452358.5:c.608A>G	ENSP00000414333.1:p.Gln203Arg
ENST00000467284.1:n.155A>G
ENST00000473092.5:c.1109A>G	ENSP00000418674.1:p.Gln370Arg
ENST00000477651.5:n.873A>G
NM_001011655.2:c.1109A>G	NP_001011655.1:p.Gln370Arg
NM_001166305.1:c.1250A>G	NP_001159777.1:p.Gln417Arg
NM_001166306.1:c.1105A>G	NP_001159778.1:p.Arg369Gly
NM_138399.4:c.1109A>G	NP_612408.3:p.Gln370Arg
XM_005269371.3:c.1109A>G	XP_005269428.1:p.Gln370Arg
XM_011513318.1:c.1259A>G	XP_011511620.1:p.Gln420Arg
XM_011513319.1:c.1196A>G	XP_011511621.1:p.Gln399Arg
XM_011513320.1:c.1307A>G	XP_011511622.1:p.Gln436Arg
XM_011513321.1:c.1175A>G	XP_011511623.1:p.Gln392Arg
XM_011513322.1:c.1166A>G	XP_011511624.1:p.Gln389Arg
XM_011513323.1:c.1004A>G	XP_011511625.1:p.Gln335Arg
XM_005269371.4:c.1109A>G	XP_005269428.1:p.Gln370Arg
XM_011513318.2:c.1259A>G	XP_011511620.1:p.Gln420Arg
XM_011513319.2:c.1196A>G	XP_011511621.1:p.Gln399Arg
XM_011513320.2:c.1307A>G	XP_011511622.1:p.Gln436Arg
XM_011513321.2:c.1175A>G	XP_011511623.1:p.Gln392Arg
XM_011513322.2:c.1166A>G	XP_011511624.1:p.Gln389Arg
XM_017007517.1:c.1118A>G	XP_016863006.1:p.Gln373Arg
XM_017007518.1:c.1118A>G	XP_016863007.1:p.Gln373Arg
NM_001011655.3:c.1109A>G MANE Select	NP_001011655.1:p.Gln370Arg
NM_001166305.2:c.1250A>G	NP_001159777.1:p.Gln417Arg
NM_001166306.2:c.1105A>G	NP_001159778.1:p.Arg369Gly
NM_138399.5:c.1109A>G	NP_612408.3:p.Gln370Arg