Canonical Allele Identifier: CA355825039

Gene: TMEM44

Linked Data

• gnomAD v4: 3-194604416-A-G
• MyVariant Identifiers: chr3:g.194325145A>G (hg19) ; chr3:g.194604416A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604416A>G , CM000665.2:g.194604416A>G	GRCh38
NC_000003.11:g.194325145A>G , CM000665.1:g.194325145A>G	GRCh37
NC_000003.10:g.195806434A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1047T>C MANE Select	ENSP00000333355.6:p.Gly349=
ENST00000347147.8:c.1047T>C	ENSP00000333355.6:p.Gly349=
ENST00000381975.7:c.1043T>C	ENSP00000371402.3:p.Val348Ala
ENST00000392432.6:c.1188T>C	ENSP00000376227.2:p.Gly396=
ENST00000419280.5:c.*343T>C	ENSP00000414077.1:n.*343T>C
ENST00000429560.1:c.239T>C	ENSP00000403053.1:p.Val80Ala
ENST00000432352.5:c.321T>C	ENSP00000409963.1:p.Gly107=
ENST00000452358.5:c.546T>C	ENSP00000414333.1:p.Gly182=
ENST00000467284.1:n.93T>C
ENST00000473092.5:c.1047T>C	ENSP00000418674.1:p.Gly349=
ENST00000477651.5:n.811T>C
NM_001011655.2:c.1047T>C	NP_001011655.1:p.Gly349=
NM_001166305.1:c.1188T>C	NP_001159777.1:p.Gly396=
NM_001166306.1:c.1043T>C	NP_001159778.1:p.Val348Ala
NM_138399.4:c.1047T>C	NP_612408.3:p.Gly349=
XM_005269371.3:c.1047T>C	XP_005269428.1:p.Gly349=
XM_011513318.1:c.1197T>C	XP_011511620.1:p.Gly399=
XM_011513319.1:c.1134T>C	XP_011511621.1:p.Gly378=
XM_011513320.1:c.1245T>C	XP_011511622.1:p.Gly415=
XM_011513321.1:c.1113T>C	XP_011511623.1:p.Gly371=
XM_011513322.1:c.1104T>C	XP_011511624.1:p.Gly368=
XM_011513323.1:c.942T>C	XP_011511625.1:p.Gly314=
XM_005269371.4:c.1047T>C	XP_005269428.1:p.Gly349=
XM_011513318.2:c.1197T>C	XP_011511620.1:p.Gly399=
XM_011513319.2:c.1134T>C	XP_011511621.1:p.Gly378=
XM_011513320.2:c.1245T>C	XP_011511622.1:p.Gly415=
XM_011513321.2:c.1113T>C	XP_011511623.1:p.Gly371=
XM_011513322.2:c.1104T>C	XP_011511624.1:p.Gly368=
XM_017007517.1:c.1056T>C	XP_016863006.1:p.Gly352=
XM_017007518.1:c.1056T>C	XP_016863007.1:p.Gly352=
NM_001011655.3:c.1047T>C MANE Select	NP_001011655.1:p.Gly349=
NM_001166305.2:c.1188T>C	NP_001159777.1:p.Gly396=
NM_001166306.2:c.1043T>C	NP_001159778.1:p.Val348Ala
NM_138399.5:c.1047T>C	NP_612408.3:p.Gly349=