Canonical Allele Identifier: CA2762680

Gene: TMEM44

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194617122C>T , CM000665.2:g.194617122C>T	GRCh38
NC_000003.11:g.194337851C>T , CM000665.1:g.194337851C>T	GRCh37
NC_000003.10:g.195819140C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.760G>A MANE Select	ENSP00000333355.6:p.Gly254Ser
ENST00000347147.8:c.760G>A	ENSP00000333355.6:p.Gly254Ser
ENST00000381975.7:c.760G>A	ENSP00000371402.3:p.Gly254Ser
ENST00000392432.6:c.901G>A	ENSP00000376227.2:p.Gly301Ser
ENST00000419280.5:c.304-231G>A	ENSP00000414077.1:n.304-231G>A
ENST00000432352.5:c.34G>A	ENSP00000409963.1:p.Gly12Ser
ENST00000452358.5:c.310-1452G>A	ENSP00000414333.1:n.310-1452G>A
ENST00000473092.5:c.760G>A	ENSP00000418674.1:p.Gly254Ser
ENST00000477651.5:n.524G>A
ENST00000494894.5:n.612G>A
NM_001011655.2:c.760G>A	NP_001011655.1:p.Gly254Ser
NM_001166305.1:c.901G>A	NP_001159777.1:p.Gly301Ser
NM_001166306.1:c.760G>A	NP_001159778.1:p.Gly254Ser
NM_138399.4:c.760G>A	NP_612408.3:p.Gly254Ser
XM_005269371.3:c.760G>A	XP_005269428.1:p.Gly254Ser
XM_011513318.1:c.910G>A	XP_011511620.1:p.Gly304Ser
XM_011513319.1:c.790G>A	XP_011511621.1:p.Gly264Ser
XM_011513320.1:c.901G>A	XP_011511622.1:p.Gly301Ser
XM_011513321.1:c.769G>A	XP_011511623.1:p.Gly257Ser
XM_011513322.1:c.760G>A	XP_011511624.1:p.Gly254Ser
XM_011513323.1:c.622-1425G>A	XP_011511625.1:n.622-1425G>A
XM_005269371.4:c.760G>A	XP_005269428.1:p.Gly254Ser
XM_011513318.2:c.910G>A	XP_011511620.1:p.Gly304Ser
XM_011513319.2:c.790G>A	XP_011511621.1:p.Gly264Ser
XM_011513320.2:c.901G>A	XP_011511622.1:p.Gly301Ser
XM_011513321.2:c.769G>A	XP_011511623.1:p.Gly257Ser
XM_011513322.2:c.760G>A	XP_011511624.1:p.Gly254Ser
XM_017007517.1:c.769G>A	XP_016863006.1:p.Gly257Ser
XM_017007518.1:c.769G>A	XP_016863007.1:p.Gly257Ser
NM_001011655.3:c.760G>A MANE Select	NP_001011655.1:p.Gly254Ser
NM_001166305.2:c.901G>A	NP_001159777.1:p.Gly301Ser
NM_001166306.2:c.760G>A	NP_001159778.1:p.Gly254Ser
NM_138399.5:c.760G>A	NP_612408.3:p.Gly254Ser