Canonical Allele Identifier: CA355824930

Gene: TMEM44

Linked Data

• MyVariant Identifiers: chr3:g.194325104G>C (hg19) ; chr3:g.194604375G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604375G>C , CM000665.2:g.194604375G>C	GRCh38
NC_000003.11:g.194325104G>C , CM000665.1:g.194325104G>C	GRCh37
NC_000003.10:g.195806393G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1088C>G MANE Select	ENSP00000333355.6:p.Pro363Arg
ENST00000347147.8:c.1088C>G	ENSP00000333355.6:p.Pro363Arg
ENST00000381975.7:c.1084C>G	ENSP00000371402.3:p.Pro362Ala
ENST00000392432.6:c.1229C>G	ENSP00000376227.2:p.Pro410Arg
ENST00000419280.5:c.*384C>G	ENSP00000414077.1:n.*384C>G
ENST00000429560.1:c.280C>G	ENSP00000403053.1:p.Pro94Ala
ENST00000432352.5:c.362C>G	ENSP00000409963.1:p.Pro121Arg
ENST00000452358.5:c.587C>G	ENSP00000414333.1:p.Pro196Arg
ENST00000467284.1:n.134C>G
ENST00000473092.5:c.1088C>G	ENSP00000418674.1:p.Pro363Arg
ENST00000477651.5:n.852C>G
NM_001011655.2:c.1088C>G	NP_001011655.1:p.Pro363Arg
NM_001166305.1:c.1229C>G	NP_001159777.1:p.Pro410Arg
NM_001166306.1:c.1084C>G	NP_001159778.1:p.Pro362Ala
NM_138399.4:c.1088C>G	NP_612408.3:p.Pro363Arg
XM_005269371.3:c.1088C>G	XP_005269428.1:p.Pro363Arg
XM_011513318.1:c.1238C>G	XP_011511620.1:p.Pro413Arg
XM_011513319.1:c.1175C>G	XP_011511621.1:p.Pro392Arg
XM_011513320.1:c.1286C>G	XP_011511622.1:p.Pro429Arg
XM_011513321.1:c.1154C>G	XP_011511623.1:p.Pro385Arg
XM_011513322.1:c.1145C>G	XP_011511624.1:p.Pro382Arg
XM_011513323.1:c.983C>G	XP_011511625.1:p.Pro328Arg
XM_005269371.4:c.1088C>G	XP_005269428.1:p.Pro363Arg
XM_011513318.2:c.1238C>G	XP_011511620.1:p.Pro413Arg
XM_011513319.2:c.1175C>G	XP_011511621.1:p.Pro392Arg
XM_011513320.2:c.1286C>G	XP_011511622.1:p.Pro429Arg
XM_011513321.2:c.1154C>G	XP_011511623.1:p.Pro385Arg
XM_011513322.2:c.1145C>G	XP_011511624.1:p.Pro382Arg
XM_017007517.1:c.1097C>G	XP_016863006.1:p.Pro366Arg
XM_017007518.1:c.1097C>G	XP_016863007.1:p.Pro366Arg
NM_001011655.3:c.1088C>G MANE Select	NP_001011655.1:p.Pro363Arg
NM_001166305.2:c.1229C>G	NP_001159777.1:p.Pro410Arg
NM_001166306.2:c.1084C>G	NP_001159778.1:p.Pro362Ala
NM_138399.5:c.1088C>G	NP_612408.3:p.Pro363Arg