Canonical Allele Identifier: CA2762543

Gene: TMEM44

Linked Data

• dbSNP Id: rs377127208
• ExAC: 3:194325117 A / T
• gnomAD v2: 3-194325117-A-T
• gnomAD v3: 3-194604388-A-T
• gnomAD v4: 3-194604388-A-T
• MyVariant Identifiers: chr3:g.194325117A>T (hg19) ; chr3:g.194604388A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604388A>T , CM000665.2:g.194604388A>T	GRCh38
NC_000003.11:g.194325117A>T , CM000665.1:g.194325117A>T	GRCh37
NC_000003.10:g.195806406A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1075T>A MANE Select	ENSP00000333355.6:p.Ser359Thr
ENST00000347147.8:c.1075T>A	ENSP00000333355.6:p.Ser359Thr
ENST00000381975.7:c.1071T>A	ENSP00000371402.3:p.Arg357=
ENST00000392432.6:c.1216T>A	ENSP00000376227.2:p.Ser406Thr
ENST00000419280.5:c.*371T>A	ENSP00000414077.1:n.*371T>A
ENST00000429560.1:c.267T>A	ENSP00000403053.1:p.Arg89=
ENST00000432352.5:c.349T>A	ENSP00000409963.1:p.Ser117Thr
ENST00000452358.5:c.574T>A	ENSP00000414333.1:p.Ser192Thr
ENST00000467284.1:n.121T>A
ENST00000473092.5:c.1075T>A	ENSP00000418674.1:p.Ser359Thr
ENST00000477651.5:n.839T>A
NM_001011655.2:c.1075T>A	NP_001011655.1:p.Ser359Thr
NM_001166305.1:c.1216T>A	NP_001159777.1:p.Ser406Thr
NM_001166306.1:c.1071T>A	NP_001159778.1:p.Arg357=
NM_138399.4:c.1075T>A	NP_612408.3:p.Ser359Thr
XM_005269371.3:c.1075T>A	XP_005269428.1:p.Ser359Thr
XM_011513318.1:c.1225T>A	XP_011511620.1:p.Ser409Thr
XM_011513319.1:c.1162T>A	XP_011511621.1:p.Ser388Thr
XM_011513320.1:c.1273T>A	XP_011511622.1:p.Ser425Thr
XM_011513321.1:c.1141T>A	XP_011511623.1:p.Ser381Thr
XM_011513322.1:c.1132T>A	XP_011511624.1:p.Ser378Thr
XM_011513323.1:c.970T>A	XP_011511625.1:p.Ser324Thr
XM_005269371.4:c.1075T>A	XP_005269428.1:p.Ser359Thr
XM_011513318.2:c.1225T>A	XP_011511620.1:p.Ser409Thr
XM_011513319.2:c.1162T>A	XP_011511621.1:p.Ser388Thr
XM_011513320.2:c.1273T>A	XP_011511622.1:p.Ser425Thr
XM_011513321.2:c.1141T>A	XP_011511623.1:p.Ser381Thr
XM_011513322.2:c.1132T>A	XP_011511624.1:p.Ser378Thr
XM_017007517.1:c.1084T>A	XP_016863006.1:p.Ser362Thr
XM_017007518.1:c.1084T>A	XP_016863007.1:p.Ser362Thr
NM_001011655.3:c.1075T>A MANE Select	NP_001011655.1:p.Ser359Thr
NM_001166305.2:c.1216T>A	NP_001159777.1:p.Ser406Thr
NM_001166306.2:c.1071T>A	NP_001159778.1:p.Arg357=
NM_138399.5:c.1075T>A	NP_612408.3:p.Ser359Thr