Canonical Allele Identifier: CA355825096

Gene: TMEM44

Linked Data

• dbSNP Id: rs1312945230
• gnomAD v2: 3-194325167-C-T
• gnomAD v4: 3-194604438-C-T
• MyVariant Identifiers: chr3:g.194325167C>T (hg19) ; chr3:g.194604438C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604438C>T , CM000665.2:g.194604438C>T	GRCh38
NC_000003.11:g.194325167C>T , CM000665.1:g.194325167C>T	GRCh37
NC_000003.10:g.195806456C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1025G>A MANE Select	ENSP00000333355.6:p.Cys342Tyr
ENST00000347147.8:c.1025G>A	ENSP00000333355.6:p.Cys342Tyr
ENST00000381975.7:c.1021G>A	ENSP00000371402.3:p.Ala341Thr
ENST00000392432.6:c.1166G>A	ENSP00000376227.2:p.Cys389Tyr
ENST00000419280.5:c.*321G>A	ENSP00000414077.1:n.*321G>A
ENST00000429560.1:c.217G>A	ENSP00000403053.1:p.Ala73Thr
ENST00000432352.5:c.299G>A	ENSP00000409963.1:p.Cys100Tyr
ENST00000452358.5:c.524G>A	ENSP00000414333.1:p.Cys175Tyr
ENST00000467284.1:n.71G>A
ENST00000473092.5:c.1025G>A	ENSP00000418674.1:p.Cys342Tyr
ENST00000477651.5:n.789G>A
NM_001011655.2:c.1025G>A	NP_001011655.1:p.Cys342Tyr
NM_001166305.1:c.1166G>A	NP_001159777.1:p.Cys389Tyr
NM_001166306.1:c.1021G>A	NP_001159778.1:p.Ala341Thr
NM_138399.4:c.1025G>A	NP_612408.3:p.Cys342Tyr
XM_005269371.3:c.1025G>A	XP_005269428.1:p.Cys342Tyr
XM_011513318.1:c.1175G>A	XP_011511620.1:p.Cys392Tyr
XM_011513319.1:c.1112G>A	XP_011511621.1:p.Cys371Tyr
XM_011513320.1:c.1223G>A	XP_011511622.1:p.Cys408Tyr
XM_011513321.1:c.1091G>A	XP_011511623.1:p.Cys364Tyr
XM_011513322.1:c.1082G>A	XP_011511624.1:p.Cys361Tyr
XM_011513323.1:c.920G>A	XP_011511625.1:p.Cys307Tyr
XM_005269371.4:c.1025G>A	XP_005269428.1:p.Cys342Tyr
XM_011513318.2:c.1175G>A	XP_011511620.1:p.Cys392Tyr
XM_011513319.2:c.1112G>A	XP_011511621.1:p.Cys371Tyr
XM_011513320.2:c.1223G>A	XP_011511622.1:p.Cys408Tyr
XM_011513321.2:c.1091G>A	XP_011511623.1:p.Cys364Tyr
XM_011513322.2:c.1082G>A	XP_011511624.1:p.Cys361Tyr
XM_017007517.1:c.1034G>A	XP_016863006.1:p.Cys345Tyr
XM_017007518.1:c.1034G>A	XP_016863007.1:p.Cys345Tyr
NM_001011655.3:c.1025G>A MANE Select	NP_001011655.1:p.Cys342Tyr
NM_001166305.2:c.1166G>A	NP_001159777.1:p.Cys389Tyr
NM_001166306.2:c.1021G>A	NP_001159778.1:p.Ala341Thr
NM_138399.5:c.1025G>A	NP_612408.3:p.Cys342Tyr