Canonical Allele Identifier: CA355825055

Gene: TMEM44

Linked Data

• MyVariant Identifiers: chr3:g.194325152A>C (hg19) ; chr3:g.194604423A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604423A>C , CM000665.2:g.194604423A>C	GRCh38
NC_000003.11:g.194325152A>C , CM000665.1:g.194325152A>C	GRCh37
NC_000003.10:g.195806441A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1040T>G MANE Select	ENSP00000333355.6:p.Leu347Arg
ENST00000347147.8:c.1040T>G	ENSP00000333355.6:p.Leu347Arg
ENST00000381975.7:c.1036T>G	ENSP00000371402.3:p.Cys346Gly
ENST00000392432.6:c.1181T>G	ENSP00000376227.2:p.Leu394Arg
ENST00000419280.5:c.*336T>G	ENSP00000414077.1:n.*336T>G
ENST00000429560.1:c.232T>G	ENSP00000403053.1:p.Cys78Gly
ENST00000432352.5:c.314T>G	ENSP00000409963.1:p.Leu105Arg
ENST00000452358.5:c.539T>G	ENSP00000414333.1:p.Leu180Arg
ENST00000467284.1:n.86T>G
ENST00000473092.5:c.1040T>G	ENSP00000418674.1:p.Leu347Arg
ENST00000477651.5:n.804T>G
NM_001011655.2:c.1040T>G	NP_001011655.1:p.Leu347Arg
NM_001166305.1:c.1181T>G	NP_001159777.1:p.Leu394Arg
NM_001166306.1:c.1036T>G	NP_001159778.1:p.Cys346Gly
NM_138399.4:c.1040T>G	NP_612408.3:p.Leu347Arg
XM_005269371.3:c.1040T>G	XP_005269428.1:p.Leu347Arg
XM_011513318.1:c.1190T>G	XP_011511620.1:p.Leu397Arg
XM_011513319.1:c.1127T>G	XP_011511621.1:p.Leu376Arg
XM_011513320.1:c.1238T>G	XP_011511622.1:p.Leu413Arg
XM_011513321.1:c.1106T>G	XP_011511623.1:p.Leu369Arg
XM_011513322.1:c.1097T>G	XP_011511624.1:p.Leu366Arg
XM_011513323.1:c.935T>G	XP_011511625.1:p.Leu312Arg
XM_005269371.4:c.1040T>G	XP_005269428.1:p.Leu347Arg
XM_011513318.2:c.1190T>G	XP_011511620.1:p.Leu397Arg
XM_011513319.2:c.1127T>G	XP_011511621.1:p.Leu376Arg
XM_011513320.2:c.1238T>G	XP_011511622.1:p.Leu413Arg
XM_011513321.2:c.1106T>G	XP_011511623.1:p.Leu369Arg
XM_011513322.2:c.1097T>G	XP_011511624.1:p.Leu366Arg
XM_017007517.1:c.1049T>G	XP_016863006.1:p.Leu350Arg
XM_017007518.1:c.1049T>G	XP_016863007.1:p.Leu350Arg
NM_001011655.3:c.1040T>G MANE Select	NP_001011655.1:p.Leu347Arg
NM_001166305.2:c.1181T>G	NP_001159777.1:p.Leu394Arg
NM_001166306.2:c.1036T>G	NP_001159778.1:p.Cys346Gly
NM_138399.5:c.1040T>G	NP_612408.3:p.Leu347Arg