Canonical Allele Identifier: CA355824957

Gene: TMEM44

Linked Data

• gnomAD v4: 3-194604384-A-T
• MyVariant Identifiers: chr3:g.194325113A>T (hg19) ; chr3:g.194604384A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604384A>T , CM000665.2:g.194604384A>T	GRCh38
NC_000003.11:g.194325113A>T , CM000665.1:g.194325113A>T	GRCh37
NC_000003.10:g.195806402A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1079T>A MANE Select	ENSP00000333355.6:p.Leu360Gln
ENST00000347147.8:c.1079T>A	ENSP00000333355.6:p.Leu360Gln
ENST00000381975.7:c.1075T>A	ENSP00000371402.3:p.Cys359Ser
ENST00000392432.6:c.1220T>A	ENSP00000376227.2:p.Leu407Gln
ENST00000419280.5:c.*375T>A	ENSP00000414077.1:n.*375T>A
ENST00000429560.1:c.271T>A	ENSP00000403053.1:p.Cys91Ser
ENST00000432352.5:c.353T>A	ENSP00000409963.1:p.Leu118Gln
ENST00000452358.5:c.578T>A	ENSP00000414333.1:p.Leu193Gln
ENST00000467284.1:n.125T>A
ENST00000473092.5:c.1079T>A	ENSP00000418674.1:p.Leu360Gln
ENST00000477651.5:n.843T>A
NM_001011655.2:c.1079T>A	NP_001011655.1:p.Leu360Gln
NM_001166305.1:c.1220T>A	NP_001159777.1:p.Leu407Gln
NM_001166306.1:c.1075T>A	NP_001159778.1:p.Cys359Ser
NM_138399.4:c.1079T>A	NP_612408.3:p.Leu360Gln
XM_005269371.3:c.1079T>A	XP_005269428.1:p.Leu360Gln
XM_011513318.1:c.1229T>A	XP_011511620.1:p.Leu410Gln
XM_011513319.1:c.1166T>A	XP_011511621.1:p.Leu389Gln
XM_011513320.1:c.1277T>A	XP_011511622.1:p.Leu426Gln
XM_011513321.1:c.1145T>A	XP_011511623.1:p.Leu382Gln
XM_011513322.1:c.1136T>A	XP_011511624.1:p.Leu379Gln
XM_011513323.1:c.974T>A	XP_011511625.1:p.Leu325Gln
XM_005269371.4:c.1079T>A	XP_005269428.1:p.Leu360Gln
XM_011513318.2:c.1229T>A	XP_011511620.1:p.Leu410Gln
XM_011513319.2:c.1166T>A	XP_011511621.1:p.Leu389Gln
XM_011513320.2:c.1277T>A	XP_011511622.1:p.Leu426Gln
XM_011513321.2:c.1145T>A	XP_011511623.1:p.Leu382Gln
XM_011513322.2:c.1136T>A	XP_011511624.1:p.Leu379Gln
XM_017007517.1:c.1088T>A	XP_016863006.1:p.Leu363Gln
XM_017007518.1:c.1088T>A	XP_016863007.1:p.Leu363Gln
NM_001011655.3:c.1079T>A MANE Select	NP_001011655.1:p.Leu360Gln
NM_001166305.2:c.1220T>A	NP_001159777.1:p.Leu407Gln
NM_001166306.2:c.1075T>A	NP_001159778.1:p.Cys359Ser
NM_138399.5:c.1079T>A	NP_612408.3:p.Leu360Gln