Canonical Allele Identifier: CA355824979

Gene: TMEM44

Linked Data

• gnomAD v4: 3-194604394-C-A
• MyVariant Identifiers: chr3:g.194325123C>A (hg19) ; chr3:g.194604394C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604394C>A , CM000665.2:g.194604394C>A	GRCh38
NC_000003.11:g.194325123C>A , CM000665.1:g.194325123C>A	GRCh37
NC_000003.10:g.195806412C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1069G>T MANE Select	ENSP00000333355.6:p.Asp357Tyr
ENST00000347147.8:c.1069G>T	ENSP00000333355.6:p.Asp357Tyr
ENST00000381975.7:c.1065G>T	ENSP00000371402.3:p.Glu355Asp
ENST00000392432.6:c.1210G>T	ENSP00000376227.2:p.Asp404Tyr
ENST00000419280.5:c.*365G>T	ENSP00000414077.1:n.*365G>T
ENST00000429560.1:c.261G>T	ENSP00000403053.1:p.Glu87Asp
ENST00000432352.5:c.343G>T	ENSP00000409963.1:p.Asp115Tyr
ENST00000452358.5:c.568G>T	ENSP00000414333.1:p.Asp190Tyr
ENST00000467284.1:n.115G>T
ENST00000473092.5:c.1069G>T	ENSP00000418674.1:p.Asp357Tyr
ENST00000477651.5:n.833G>T
NM_001011655.2:c.1069G>T	NP_001011655.1:p.Asp357Tyr
NM_001166305.1:c.1210G>T	NP_001159777.1:p.Asp404Tyr
NM_001166306.1:c.1065G>T	NP_001159778.1:p.Glu355Asp
NM_138399.4:c.1069G>T	NP_612408.3:p.Asp357Tyr
XM_005269371.3:c.1069G>T	XP_005269428.1:p.Asp357Tyr
XM_011513318.1:c.1219G>T	XP_011511620.1:p.Asp407Tyr
XM_011513319.1:c.1156G>T	XP_011511621.1:p.Asp386Tyr
XM_011513320.1:c.1267G>T	XP_011511622.1:p.Asp423Tyr
XM_011513321.1:c.1135G>T	XP_011511623.1:p.Asp379Tyr
XM_011513322.1:c.1126G>T	XP_011511624.1:p.Asp376Tyr
XM_011513323.1:c.964G>T	XP_011511625.1:p.Asp322Tyr
XM_005269371.4:c.1069G>T	XP_005269428.1:p.Asp357Tyr
XM_011513318.2:c.1219G>T	XP_011511620.1:p.Asp407Tyr
XM_011513319.2:c.1156G>T	XP_011511621.1:p.Asp386Tyr
XM_011513320.2:c.1267G>T	XP_011511622.1:p.Asp423Tyr
XM_011513321.2:c.1135G>T	XP_011511623.1:p.Asp379Tyr
XM_011513322.2:c.1126G>T	XP_011511624.1:p.Asp376Tyr
XM_017007517.1:c.1078G>T	XP_016863006.1:p.Asp360Tyr
XM_017007518.1:c.1078G>T	XP_016863007.1:p.Asp360Tyr
NM_001011655.3:c.1069G>T MANE Select	NP_001011655.1:p.Asp357Tyr
NM_001166305.2:c.1210G>T	NP_001159777.1:p.Asp404Tyr
NM_001166306.2:c.1065G>T	NP_001159778.1:p.Glu355Asp
NM_138399.5:c.1069G>T	NP_612408.3:p.Asp357Tyr