Canonical Allele Identifier: CA355824913
Gene: TMEM44 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.194604368C>A , CM000665.2:g.194604368C>A GRCh38
NC_000003.11:g.194325097C>A , CM000665.1:g.194325097C>A GRCh37
NC_000003.10:g.195806386C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000347147.9:c.1095G>T MANE Select ENSP00000333355.6:p.Ser365=
ENST00000347147.8:c.1095G>T ENSP00000333355.6:p.Ser365=
ENST00000381975.7:c.1091G>T ENSP00000371402.3:p.Arg364Leu
ENST00000392432.6:c.1236G>T ENSP00000376227.2:p.Ser412=
ENST00000419280.5:c.*391G>T ENSP00000414077.1:n.*391G>T
ENST00000429560.1:c.287G>T ENSP00000403053.1:p.Arg96Leu
ENST00000432352.5:c.369G>T ENSP00000409963.1:p.Ser123=
ENST00000452358.5:c.594G>T ENSP00000414333.1:p.Ser198=
ENST00000467284.1:n.141G>T
ENST00000473092.5:c.1095G>T ENSP00000418674.1:p.Ser365=
ENST00000477651.5:n.859G>T
NM_001011655.2:c.1095G>T NP_001011655.1:p.Ser365=
NM_001166305.1:c.1236G>T NP_001159777.1:p.Ser412=
NM_001166306.1:c.1091G>T NP_001159778.1:p.Arg364Leu
NM_138399.4:c.1095G>T NP_612408.3:p.Ser365=
XM_005269371.3:c.1095G>T XP_005269428.1:p.Ser365=
XM_011513318.1:c.1245G>T XP_011511620.1:p.Ser415=
XM_011513319.1:c.1182G>T XP_011511621.1:p.Ser394=
XM_011513320.1:c.1293G>T XP_011511622.1:p.Ser431=
XM_011513321.1:c.1161G>T XP_011511623.1:p.Ser387=
XM_011513322.1:c.1152G>T XP_011511624.1:p.Ser384=
XM_011513323.1:c.990G>T XP_011511625.1:p.Ser330=
XM_005269371.4:c.1095G>T XP_005269428.1:p.Ser365=
XM_011513318.2:c.1245G>T XP_011511620.1:p.Ser415=
XM_011513319.2:c.1182G>T XP_011511621.1:p.Ser394=
XM_011513320.2:c.1293G>T XP_011511622.1:p.Ser431=
XM_011513321.2:c.1161G>T XP_011511623.1:p.Ser387=
XM_011513322.2:c.1152G>T XP_011511624.1:p.Ser384=
XM_017007517.1:c.1104G>T XP_016863006.1:p.Ser368=
XM_017007518.1:c.1104G>T XP_016863007.1:p.Ser368=
NM_001011655.3:c.1095G>T MANE Select NP_001011655.1:p.Ser365=
NM_001166305.2:c.1236G>T NP_001159777.1:p.Ser412=
NM_001166306.2:c.1091G>T NP_001159778.1:p.Arg364Leu
NM_138399.5:c.1095G>T NP_612408.3:p.Ser365=