Canonical Allele Identifier: CA355825051

Gene: TMEM44

Linked Data

• gnomAD v4: 3-194604420-G-T
• MyVariant Identifiers: chr3:g.194325149G>T (hg19) ; chr3:g.194604420G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604420G>T , CM000665.2:g.194604420G>T	GRCh38
NC_000003.11:g.194325149G>T , CM000665.1:g.194325149G>T	GRCh37
NC_000003.10:g.195806438G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1043C>A MANE Select	ENSP00000333355.6:p.Pro348Gln
ENST00000347147.8:c.1043C>A	ENSP00000333355.6:p.Pro348Gln
ENST00000381975.7:c.1039C>A	ENSP00000371402.3:p.Gln347Lys
ENST00000392432.6:c.1184C>A	ENSP00000376227.2:p.Pro395Gln
ENST00000419280.5:c.*339C>A	ENSP00000414077.1:n.*339C>A
ENST00000429560.1:c.235C>A	ENSP00000403053.1:p.Gln79Lys
ENST00000432352.5:c.317C>A	ENSP00000409963.1:p.Pro106Gln
ENST00000452358.5:c.542C>A	ENSP00000414333.1:p.Pro181Gln
ENST00000467284.1:n.89C>A
ENST00000473092.5:c.1043C>A	ENSP00000418674.1:p.Pro348Gln
ENST00000477651.5:n.807C>A
NM_001011655.2:c.1043C>A	NP_001011655.1:p.Pro348Gln
NM_001166305.1:c.1184C>A	NP_001159777.1:p.Pro395Gln
NM_001166306.1:c.1039C>A	NP_001159778.1:p.Gln347Lys
NM_138399.4:c.1043C>A	NP_612408.3:p.Pro348Gln
XM_005269371.3:c.1043C>A	XP_005269428.1:p.Pro348Gln
XM_011513318.1:c.1193C>A	XP_011511620.1:p.Pro398Gln
XM_011513319.1:c.1130C>A	XP_011511621.1:p.Pro377Gln
XM_011513320.1:c.1241C>A	XP_011511622.1:p.Pro414Gln
XM_011513321.1:c.1109C>A	XP_011511623.1:p.Pro370Gln
XM_011513322.1:c.1100C>A	XP_011511624.1:p.Pro367Gln
XM_011513323.1:c.938C>A	XP_011511625.1:p.Pro313Gln
XM_005269371.4:c.1043C>A	XP_005269428.1:p.Pro348Gln
XM_011513318.2:c.1193C>A	XP_011511620.1:p.Pro398Gln
XM_011513319.2:c.1130C>A	XP_011511621.1:p.Pro377Gln
XM_011513320.2:c.1241C>A	XP_011511622.1:p.Pro414Gln
XM_011513321.2:c.1109C>A	XP_011511623.1:p.Pro370Gln
XM_011513322.2:c.1100C>A	XP_011511624.1:p.Pro367Gln
XM_017007517.1:c.1052C>A	XP_016863006.1:p.Pro351Gln
XM_017007518.1:c.1052C>A	XP_016863007.1:p.Pro351Gln
NM_001011655.3:c.1043C>A MANE Select	NP_001011655.1:p.Pro348Gln
NM_001166305.2:c.1184C>A	NP_001159777.1:p.Pro395Gln
NM_001166306.2:c.1039C>A	NP_001159778.1:p.Gln347Lys
NM_138399.5:c.1043C>A	NP_612408.3:p.Pro348Gln