Canonical Allele Identifier: CA2762547

Gene: TMEM44

Linked Data

• dbSNP Id: rs746689416
• ExAC: 3:194325122 T / C
• gnomAD v2: 3-194325122-T-C
• gnomAD v3: 3-194604393-T-C
• gnomAD v4: 3-194604393-T-C
• MyVariant Identifiers: chr3:g.194325122T>C (hg19) ; chr3:g.194604393T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604393T>C , CM000665.2:g.194604393T>C	GRCh38
NC_000003.11:g.194325122T>C , CM000665.1:g.194325122T>C	GRCh37
NC_000003.10:g.195806411T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1070A>G MANE Select	ENSP00000333355.6:p.Asp357Gly
ENST00000347147.8:c.1070A>G	ENSP00000333355.6:p.Asp357Gly
ENST00000381975.7:c.1066A>G	ENSP00000371402.3:p.Met356Val
ENST00000392432.6:c.1211A>G	ENSP00000376227.2:p.Asp404Gly
ENST00000419280.5:c.*366A>G	ENSP00000414077.1:n.*366A>G
ENST00000429560.1:c.262A>G	ENSP00000403053.1:p.Met88Val
ENST00000432352.5:c.344A>G	ENSP00000409963.1:p.Asp115Gly
ENST00000452358.5:c.569A>G	ENSP00000414333.1:p.Asp190Gly
ENST00000467284.1:n.116A>G
ENST00000473092.5:c.1070A>G	ENSP00000418674.1:p.Asp357Gly
ENST00000477651.5:n.834A>G
NM_001011655.2:c.1070A>G	NP_001011655.1:p.Asp357Gly
NM_001166305.1:c.1211A>G	NP_001159777.1:p.Asp404Gly
NM_001166306.1:c.1066A>G	NP_001159778.1:p.Met356Val
NM_138399.4:c.1070A>G	NP_612408.3:p.Asp357Gly
XM_005269371.3:c.1070A>G	XP_005269428.1:p.Asp357Gly
XM_011513318.1:c.1220A>G	XP_011511620.1:p.Asp407Gly
XM_011513319.1:c.1157A>G	XP_011511621.1:p.Asp386Gly
XM_011513320.1:c.1268A>G	XP_011511622.1:p.Asp423Gly
XM_011513321.1:c.1136A>G	XP_011511623.1:p.Asp379Gly
XM_011513322.1:c.1127A>G	XP_011511624.1:p.Asp376Gly
XM_011513323.1:c.965A>G	XP_011511625.1:p.Asp322Gly
XM_005269371.4:c.1070A>G	XP_005269428.1:p.Asp357Gly
XM_011513318.2:c.1220A>G	XP_011511620.1:p.Asp407Gly
XM_011513319.2:c.1157A>G	XP_011511621.1:p.Asp386Gly
XM_011513320.2:c.1268A>G	XP_011511622.1:p.Asp423Gly
XM_011513321.2:c.1136A>G	XP_011511623.1:p.Asp379Gly
XM_011513322.2:c.1127A>G	XP_011511624.1:p.Asp376Gly
XM_017007517.1:c.1079A>G	XP_016863006.1:p.Asp360Gly
XM_017007518.1:c.1079A>G	XP_016863007.1:p.Asp360Gly
NM_001011655.3:c.1070A>G MANE Select	NP_001011655.1:p.Asp357Gly
NM_001166305.2:c.1211A>G	NP_001159777.1:p.Asp404Gly
NM_001166306.2:c.1066A>G	NP_001159778.1:p.Met356Val
NM_138399.5:c.1070A>G	NP_612408.3:p.Asp357Gly