Canonical Allele Identifier: CA355825101

Gene: TMEM44

Linked Data

• gnomAD v4: 3-194604439-A-G
• MyVariant Identifiers: chr3:g.194325168A>G (hg19) ; chr3:g.194604439A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604439A>G , CM000665.2:g.194604439A>G	GRCh38
NC_000003.11:g.194325168A>G , CM000665.1:g.194325168A>G	GRCh37
NC_000003.10:g.195806457A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1024T>C MANE Select	ENSP00000333355.6:p.Cys342Arg
ENST00000347147.8:c.1024T>C	ENSP00000333355.6:p.Cys342Arg
ENST00000381975.7:c.1020T>C	ENSP00000371402.3:p.Ala340=
ENST00000392432.6:c.1165T>C	ENSP00000376227.2:p.Cys389Arg
ENST00000419280.5:c.*320T>C	ENSP00000414077.1:n.*320T>C
ENST00000429560.1:c.216T>C	ENSP00000403053.1:p.Ala72=
ENST00000432352.5:c.298T>C	ENSP00000409963.1:p.Cys100Arg
ENST00000452358.5:c.523T>C	ENSP00000414333.1:p.Cys175Arg
ENST00000467284.1:n.70T>C
ENST00000473092.5:c.1024T>C	ENSP00000418674.1:p.Cys342Arg
ENST00000477651.5:n.788T>C
NM_001011655.2:c.1024T>C	NP_001011655.1:p.Cys342Arg
NM_001166305.1:c.1165T>C	NP_001159777.1:p.Cys389Arg
NM_001166306.1:c.1020T>C	NP_001159778.1:p.Ala340=
NM_138399.4:c.1024T>C	NP_612408.3:p.Cys342Arg
XM_005269371.3:c.1024T>C	XP_005269428.1:p.Cys342Arg
XM_011513318.1:c.1174T>C	XP_011511620.1:p.Cys392Arg
XM_011513319.1:c.1111T>C	XP_011511621.1:p.Cys371Arg
XM_011513320.1:c.1222T>C	XP_011511622.1:p.Cys408Arg
XM_011513321.1:c.1090T>C	XP_011511623.1:p.Cys364Arg
XM_011513322.1:c.1081T>C	XP_011511624.1:p.Cys361Arg
XM_011513323.1:c.919T>C	XP_011511625.1:p.Cys307Arg
XM_005269371.4:c.1024T>C	XP_005269428.1:p.Cys342Arg
XM_011513318.2:c.1174T>C	XP_011511620.1:p.Cys392Arg
XM_011513319.2:c.1111T>C	XP_011511621.1:p.Cys371Arg
XM_011513320.2:c.1222T>C	XP_011511622.1:p.Cys408Arg
XM_011513321.2:c.1090T>C	XP_011511623.1:p.Cys364Arg
XM_011513322.2:c.1081T>C	XP_011511624.1:p.Cys361Arg
XM_017007517.1:c.1033T>C	XP_016863006.1:p.Cys345Arg
XM_017007518.1:c.1033T>C	XP_016863007.1:p.Cys345Arg
NM_001011655.3:c.1024T>C MANE Select	NP_001011655.1:p.Cys342Arg
NM_001166305.2:c.1165T>C	NP_001159777.1:p.Cys389Arg
NM_001166306.2:c.1020T>C	NP_001159778.1:p.Ala340=
NM_138399.5:c.1024T>C	NP_612408.3:p.Cys342Arg