Canonical Allele Identifier: CA355824881
Gene: TMEM44 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.194604356A>G , CM000665.2:g.194604356A>G GRCh38
NC_000003.11:g.194325085A>G , CM000665.1:g.194325085A>G GRCh37
NC_000003.10:g.195806374A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000347147.9:c.1107T>C MANE Select ENSP00000333355.6:p.Val369=
ENST00000347147.8:c.1107T>C ENSP00000333355.6:p.Val369=
ENST00000381975.7:c.1103T>C ENSP00000371402.3:p.Phe368Ser
ENST00000392432.6:c.1248T>C ENSP00000376227.2:p.Val416=
ENST00000419280.5:c.*403T>C ENSP00000414077.1:n.*403T>C
ENST00000429560.1:c.299T>C ENSP00000403053.1:p.Phe100Ser
ENST00000432352.5:c.381T>C ENSP00000409963.1:p.Val127=
ENST00000452358.5:c.606T>C ENSP00000414333.1:p.Val202=
ENST00000467284.1:n.153T>C
ENST00000473092.5:c.1107T>C ENSP00000418674.1:p.Val369=
ENST00000477651.5:n.871T>C
NM_001011655.2:c.1107T>C NP_001011655.1:p.Val369=
NM_001166305.1:c.1248T>C NP_001159777.1:p.Val416=
NM_001166306.1:c.1103T>C NP_001159778.1:p.Phe368Ser
NM_138399.4:c.1107T>C NP_612408.3:p.Val369=
XM_005269371.3:c.1107T>C XP_005269428.1:p.Val369=
XM_011513318.1:c.1257T>C XP_011511620.1:p.Val419=
XM_011513319.1:c.1194T>C XP_011511621.1:p.Val398=
XM_011513320.1:c.1305T>C XP_011511622.1:p.Val435=
XM_011513321.1:c.1173T>C XP_011511623.1:p.Val391=
XM_011513322.1:c.1164T>C XP_011511624.1:p.Val388=
XM_011513323.1:c.1002T>C XP_011511625.1:p.Val334=
XM_005269371.4:c.1107T>C XP_005269428.1:p.Val369=
XM_011513318.2:c.1257T>C XP_011511620.1:p.Val419=
XM_011513319.2:c.1194T>C XP_011511621.1:p.Val398=
XM_011513320.2:c.1305T>C XP_011511622.1:p.Val435=
XM_011513321.2:c.1173T>C XP_011511623.1:p.Val391=
XM_011513322.2:c.1164T>C XP_011511624.1:p.Val388=
XM_017007517.1:c.1116T>C XP_016863006.1:p.Val372=
XM_017007518.1:c.1116T>C XP_016863007.1:p.Val372=
NM_001011655.3:c.1107T>C MANE Select NP_001011655.1:p.Val369=
NM_001166305.2:c.1248T>C NP_001159777.1:p.Val416=
NM_001166306.2:c.1103T>C NP_001159778.1:p.Phe368Ser
NM_138399.5:c.1107T>C NP_612408.3:p.Val369=