Canonical Allele Identifier: CA355825110

Gene: TMEM44

Linked Data

• dbSNP Id: rs1376953816
• gnomAD v2: 3-194325171-C-G
• MyVariant Identifiers: chr3:g.194325171C>G (hg19) ; chr3:g.194604442C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604442C>G , CM000665.2:g.194604442C>G	GRCh38
NC_000003.11:g.194325171C>G , CM000665.1:g.194325171C>G	GRCh37
NC_000003.10:g.195806460C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1021G>C MANE Select	ENSP00000333355.6:p.Gly341Arg
ENST00000347147.8:c.1021G>C	ENSP00000333355.6:p.Gly341Arg
ENST00000381975.7:c.1018-1G>C	ENSP00000371402.3:n.1018-1G>C
ENST00000392432.6:c.1162G>C	ENSP00000376227.2:p.Gly388Arg
ENST00000419280.5:c.*317G>C	ENSP00000414077.1:n.*317G>C
ENST00000429560.1:c.214-1G>C	ENSP00000403053.1:n.214-1G>C
ENST00000432352.5:c.295G>C	ENSP00000409963.1:p.Gly99Arg
ENST00000452358.5:c.520G>C	ENSP00000414333.1:p.Gly174Arg
ENST00000467284.1:n.67G>C
ENST00000473092.5:c.1021G>C	ENSP00000418674.1:p.Gly341Arg
ENST00000477651.5:n.785G>C
NM_001011655.2:c.1021G>C	NP_001011655.1:p.Gly341Arg
NM_001166305.1:c.1162G>C	NP_001159777.1:p.Gly388Arg
NM_001166306.1:c.1018-1G>C	NP_001159778.1:n.1018-1G>C
NM_138399.4:c.1021G>C	NP_612408.3:p.Gly341Arg
XM_005269371.3:c.1021G>C	XP_005269428.1:p.Gly341Arg
XM_011513318.1:c.1171G>C	XP_011511620.1:p.Gly391Arg
XM_011513319.1:c.1108G>C	XP_011511621.1:p.Gly370Arg
XM_011513320.1:c.1219G>C	XP_011511622.1:p.Gly407Arg
XM_011513321.1:c.1087G>C	XP_011511623.1:p.Gly363Arg
XM_011513322.1:c.1078G>C	XP_011511624.1:p.Gly360Arg
XM_011513323.1:c.916G>C	XP_011511625.1:p.Gly306Arg
XM_005269371.4:c.1021G>C	XP_005269428.1:p.Gly341Arg
XM_011513318.2:c.1171G>C	XP_011511620.1:p.Gly391Arg
XM_011513319.2:c.1108G>C	XP_011511621.1:p.Gly370Arg
XM_011513320.2:c.1219G>C	XP_011511622.1:p.Gly407Arg
XM_011513321.2:c.1087G>C	XP_011511623.1:p.Gly363Arg
XM_011513322.2:c.1078G>C	XP_011511624.1:p.Gly360Arg
XM_017007517.1:c.1030G>C	XP_016863006.1:p.Gly344Arg
XM_017007518.1:c.1030G>C	XP_016863007.1:p.Gly344Arg
NM_001011655.3:c.1021G>C MANE Select	NP_001011655.1:p.Gly341Arg
NM_001166305.2:c.1162G>C	NP_001159777.1:p.Gly388Arg
NM_001166306.2:c.1018-1G>C	NP_001159778.1:n.1018-1G>C
NM_138399.5:c.1021G>C	NP_612408.3:p.Gly341Arg