Canonical Allele Identifier: CA355825078

Gene: TMEM44

Linked Data

• gnomAD v4: 3-194604432-G-A
• MyVariant Identifiers: chr3:g.194325161G>A (hg19) ; chr3:g.194604432G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604432G>A , CM000665.2:g.194604432G>A	GRCh38
NC_000003.11:g.194325161G>A , CM000665.1:g.194325161G>A	GRCh37
NC_000003.10:g.195806450G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1031C>T MANE Select	ENSP00000333355.6:p.Ala344Val
ENST00000347147.8:c.1031C>T	ENSP00000333355.6:p.Ala344Val
ENST00000381975.7:c.1027C>T	ENSP00000371402.3:p.Pro343Ser
ENST00000392432.6:c.1172C>T	ENSP00000376227.2:p.Ala391Val
ENST00000419280.5:c.*327C>T	ENSP00000414077.1:n.*327C>T
ENST00000429560.1:c.223C>T	ENSP00000403053.1:p.Pro75Ser
ENST00000432352.5:c.305C>T	ENSP00000409963.1:p.Ala102Val
ENST00000452358.5:c.530C>T	ENSP00000414333.1:p.Ala177Val
ENST00000467284.1:n.77C>T
ENST00000473092.5:c.1031C>T	ENSP00000418674.1:p.Ala344Val
ENST00000477651.5:n.795C>T
NM_001011655.2:c.1031C>T	NP_001011655.1:p.Ala344Val
NM_001166305.1:c.1172C>T	NP_001159777.1:p.Ala391Val
NM_001166306.1:c.1027C>T	NP_001159778.1:p.Pro343Ser
NM_138399.4:c.1031C>T	NP_612408.3:p.Ala344Val
XM_005269371.3:c.1031C>T	XP_005269428.1:p.Ala344Val
XM_011513318.1:c.1181C>T	XP_011511620.1:p.Ala394Val
XM_011513319.1:c.1118C>T	XP_011511621.1:p.Ala373Val
XM_011513320.1:c.1229C>T	XP_011511622.1:p.Ala410Val
XM_011513321.1:c.1097C>T	XP_011511623.1:p.Ala366Val
XM_011513322.1:c.1088C>T	XP_011511624.1:p.Ala363Val
XM_011513323.1:c.926C>T	XP_011511625.1:p.Ala309Val
XM_005269371.4:c.1031C>T	XP_005269428.1:p.Ala344Val
XM_011513318.2:c.1181C>T	XP_011511620.1:p.Ala394Val
XM_011513319.2:c.1118C>T	XP_011511621.1:p.Ala373Val
XM_011513320.2:c.1229C>T	XP_011511622.1:p.Ala410Val
XM_011513321.2:c.1097C>T	XP_011511623.1:p.Ala366Val
XM_011513322.2:c.1088C>T	XP_011511624.1:p.Ala363Val
XM_017007517.1:c.1040C>T	XP_016863006.1:p.Ala347Val
XM_017007518.1:c.1040C>T	XP_016863007.1:p.Ala347Val
NM_001011655.3:c.1031C>T MANE Select	NP_001011655.1:p.Ala344Val
NM_001166305.2:c.1172C>T	NP_001159777.1:p.Ala391Val
NM_001166306.2:c.1027C>T	NP_001159778.1:p.Pro343Ser
NM_138399.5:c.1031C>T	NP_612408.3:p.Ala344Val