Canonical Allele Identifier: CA355825012

Gene: TMEM44

Linked Data

• gnomAD v4: 3-194604406-T-C
• MyVariant Identifiers: chr3:g.194325135T>C (hg19) ; chr3:g.194604406T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604406T>C , CM000665.2:g.194604406T>C	GRCh38
NC_000003.11:g.194325135T>C , CM000665.1:g.194325135T>C	GRCh37
NC_000003.10:g.195806424T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1057A>G MANE Select	ENSP00000333355.6:p.Thr353Ala
ENST00000347147.8:c.1057A>G	ENSP00000333355.6:p.Thr353Ala
ENST00000381975.7:c.1053A>G	ENSP00000371402.3:p.Arg351=
ENST00000392432.6:c.1198A>G	ENSP00000376227.2:p.Thr400Ala
ENST00000419280.5:c.*353A>G	ENSP00000414077.1:n.*353A>G
ENST00000429560.1:c.249A>G	ENSP00000403053.1:p.Arg83=
ENST00000432352.5:c.331A>G	ENSP00000409963.1:p.Thr111Ala
ENST00000452358.5:c.556A>G	ENSP00000414333.1:p.Thr186Ala
ENST00000467284.1:n.103A>G
ENST00000473092.5:c.1057A>G	ENSP00000418674.1:p.Thr353Ala
ENST00000477651.5:n.821A>G
NM_001011655.2:c.1057A>G	NP_001011655.1:p.Thr353Ala
NM_001166305.1:c.1198A>G	NP_001159777.1:p.Thr400Ala
NM_001166306.1:c.1053A>G	NP_001159778.1:p.Arg351=
NM_138399.4:c.1057A>G	NP_612408.3:p.Thr353Ala
XM_005269371.3:c.1057A>G	XP_005269428.1:p.Thr353Ala
XM_011513318.1:c.1207A>G	XP_011511620.1:p.Thr403Ala
XM_011513319.1:c.1144A>G	XP_011511621.1:p.Thr382Ala
XM_011513320.1:c.1255A>G	XP_011511622.1:p.Thr419Ala
XM_011513321.1:c.1123A>G	XP_011511623.1:p.Thr375Ala
XM_011513322.1:c.1114A>G	XP_011511624.1:p.Thr372Ala
XM_011513323.1:c.952A>G	XP_011511625.1:p.Thr318Ala
XM_005269371.4:c.1057A>G	XP_005269428.1:p.Thr353Ala
XM_011513318.2:c.1207A>G	XP_011511620.1:p.Thr403Ala
XM_011513319.2:c.1144A>G	XP_011511621.1:p.Thr382Ala
XM_011513320.2:c.1255A>G	XP_011511622.1:p.Thr419Ala
XM_011513321.2:c.1123A>G	XP_011511623.1:p.Thr375Ala
XM_011513322.2:c.1114A>G	XP_011511624.1:p.Thr372Ala
XM_017007517.1:c.1066A>G	XP_016863006.1:p.Thr356Ala
XM_017007518.1:c.1066A>G	XP_016863007.1:p.Thr356Ala
NM_001011655.3:c.1057A>G MANE Select	NP_001011655.1:p.Thr353Ala
NM_001166305.2:c.1198A>G	NP_001159777.1:p.Thr400Ala
NM_001166306.2:c.1053A>G	NP_001159778.1:p.Arg351=
NM_138399.5:c.1057A>G	NP_612408.3:p.Thr353Ala