Canonical Allele Identifier: CA355825043

Gene: TMEM44

Linked Data

• gnomAD v4: 3-194604418-C-A
• MyVariant Identifiers: chr3:g.194325147C>A (hg19) ; chr3:g.194604418C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604418C>A , CM000665.2:g.194604418C>A	GRCh38
NC_000003.11:g.194325147C>A , CM000665.1:g.194325147C>A	GRCh37
NC_000003.10:g.195806436C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1045G>T MANE Select	ENSP00000333355.6:p.Gly349Cys
ENST00000347147.8:c.1045G>T	ENSP00000333355.6:p.Gly349Cys
ENST00000381975.7:c.1041G>T	ENSP00000371402.3:p.Gln347His
ENST00000392432.6:c.1186G>T	ENSP00000376227.2:p.Gly396Cys
ENST00000419280.5:c.*341G>T	ENSP00000414077.1:n.*341G>T
ENST00000429560.1:c.237G>T	ENSP00000403053.1:p.Gln79His
ENST00000432352.5:c.319G>T	ENSP00000409963.1:p.Gly107Cys
ENST00000452358.5:c.544G>T	ENSP00000414333.1:p.Gly182Cys
ENST00000467284.1:n.91G>T
ENST00000473092.5:c.1045G>T	ENSP00000418674.1:p.Gly349Cys
ENST00000477651.5:n.809G>T
NM_001011655.2:c.1045G>T	NP_001011655.1:p.Gly349Cys
NM_001166305.1:c.1186G>T	NP_001159777.1:p.Gly396Cys
NM_001166306.1:c.1041G>T	NP_001159778.1:p.Gln347His
NM_138399.4:c.1045G>T	NP_612408.3:p.Gly349Cys
XM_005269371.3:c.1045G>T	XP_005269428.1:p.Gly349Cys
XM_011513318.1:c.1195G>T	XP_011511620.1:p.Gly399Cys
XM_011513319.1:c.1132G>T	XP_011511621.1:p.Gly378Cys
XM_011513320.1:c.1243G>T	XP_011511622.1:p.Gly415Cys
XM_011513321.1:c.1111G>T	XP_011511623.1:p.Gly371Cys
XM_011513322.1:c.1102G>T	XP_011511624.1:p.Gly368Cys
XM_011513323.1:c.940G>T	XP_011511625.1:p.Gly314Cys
XM_005269371.4:c.1045G>T	XP_005269428.1:p.Gly349Cys
XM_011513318.2:c.1195G>T	XP_011511620.1:p.Gly399Cys
XM_011513319.2:c.1132G>T	XP_011511621.1:p.Gly378Cys
XM_011513320.2:c.1243G>T	XP_011511622.1:p.Gly415Cys
XM_011513321.2:c.1111G>T	XP_011511623.1:p.Gly371Cys
XM_011513322.2:c.1102G>T	XP_011511624.1:p.Gly368Cys
XM_017007517.1:c.1054G>T	XP_016863006.1:p.Gly352Cys
XM_017007518.1:c.1054G>T	XP_016863007.1:p.Gly352Cys
NM_001011655.3:c.1045G>T MANE Select	NP_001011655.1:p.Gly349Cys
NM_001166305.2:c.1186G>T	NP_001159777.1:p.Gly396Cys
NM_001166306.2:c.1041G>T	NP_001159778.1:p.Gln347His
NM_138399.5:c.1045G>T	NP_612408.3:p.Gly349Cys