Canonical Allele Identifier: CA2762556

Gene: TMEM44

Linked Data

• dbSNP Id: rs760897159
• ExAC: 3:194325158 G / A
• gnomAD v2: 3-194325158-G-A
• gnomAD v3: 3-194604429-G-A
• gnomAD v4: 3-194604429-G-A
• MyVariant Identifiers: chr3:g.194325158G>A (hg19) ; chr3:g.194604429G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604429G>A , CM000665.2:g.194604429G>A	GRCh38
NC_000003.11:g.194325158G>A , CM000665.1:g.194325158G>A	GRCh37
NC_000003.10:g.195806447G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1034C>T MANE Select	ENSP00000333355.6:p.Thr345Ile
ENST00000347147.8:c.1034C>T	ENSP00000333355.6:p.Thr345Ile
ENST00000381975.7:c.1030C>T	ENSP00000371402.3:p.Pro344Ser
ENST00000392432.6:c.1175C>T	ENSP00000376227.2:p.Thr392Ile
ENST00000419280.5:c.*330C>T	ENSP00000414077.1:n.*330C>T
ENST00000429560.1:c.226C>T	ENSP00000403053.1:p.Pro76Ser
ENST00000432352.5:c.308C>T	ENSP00000409963.1:p.Thr103Ile
ENST00000452358.5:c.533C>T	ENSP00000414333.1:p.Thr178Ile
ENST00000467284.1:n.80C>T
ENST00000473092.5:c.1034C>T	ENSP00000418674.1:p.Thr345Ile
ENST00000477651.5:n.798C>T
NM_001011655.2:c.1034C>T	NP_001011655.1:p.Thr345Ile
NM_001166305.1:c.1175C>T	NP_001159777.1:p.Thr392Ile
NM_001166306.1:c.1030C>T	NP_001159778.1:p.Pro344Ser
NM_138399.4:c.1034C>T	NP_612408.3:p.Thr345Ile
XM_005269371.3:c.1034C>T	XP_005269428.1:p.Thr345Ile
XM_011513318.1:c.1184C>T	XP_011511620.1:p.Thr395Ile
XM_011513319.1:c.1121C>T	XP_011511621.1:p.Thr374Ile
XM_011513320.1:c.1232C>T	XP_011511622.1:p.Thr411Ile
XM_011513321.1:c.1100C>T	XP_011511623.1:p.Thr367Ile
XM_011513322.1:c.1091C>T	XP_011511624.1:p.Thr364Ile
XM_011513323.1:c.929C>T	XP_011511625.1:p.Thr310Ile
XM_005269371.4:c.1034C>T	XP_005269428.1:p.Thr345Ile
XM_011513318.2:c.1184C>T	XP_011511620.1:p.Thr395Ile
XM_011513319.2:c.1121C>T	XP_011511621.1:p.Thr374Ile
XM_011513320.2:c.1232C>T	XP_011511622.1:p.Thr411Ile
XM_011513321.2:c.1100C>T	XP_011511623.1:p.Thr367Ile
XM_011513322.2:c.1091C>T	XP_011511624.1:p.Thr364Ile
XM_017007517.1:c.1043C>T	XP_016863006.1:p.Thr348Ile
XM_017007518.1:c.1043C>T	XP_016863007.1:p.Thr348Ile
NM_001011655.3:c.1034C>T MANE Select	NP_001011655.1:p.Thr345Ile
NM_001166305.2:c.1175C>T	NP_001159777.1:p.Thr392Ile
NM_001166306.2:c.1030C>T	NP_001159778.1:p.Pro344Ser
NM_138399.5:c.1034C>T	NP_612408.3:p.Thr345Ile