Canonical Allele Identifier: CA2762540

Gene: TMEM44

Linked Data

• ClinVar Variation Id: 2353855
• ClinVar RCV Id: RCV004197239
• dbSNP Id: rs151243596
• ExAC: 3:194325101 G / A
• gnomAD v2: 3-194325101-G-A
• gnomAD v3: 3-194604372-G-A
• gnomAD v4: 3-194604372-G-A
• MyVariant Identifiers: chr3:g.194325101G>A (hg19) ; chr3:g.194604372G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604372G>A , CM000665.2:g.194604372G>A	GRCh38
NC_000003.11:g.194325101G>A , CM000665.1:g.194325101G>A	GRCh37
NC_000003.10:g.195806390G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1091C>T MANE Select	ENSP00000333355.6:p.Pro364Leu
ENST00000347147.8:c.1091C>T	ENSP00000333355.6:p.Pro364Leu
ENST00000381975.7:c.1087C>T	ENSP00000371402.3:p.Arg363Cys
ENST00000392432.6:c.1232C>T	ENSP00000376227.2:p.Pro411Leu
ENST00000419280.5:c.*387C>T	ENSP00000414077.1:n.*387C>T
ENST00000429560.1:c.283C>T	ENSP00000403053.1:p.Arg95Cys
ENST00000432352.5:c.365C>T	ENSP00000409963.1:p.Pro122Leu
ENST00000452358.5:c.590C>T	ENSP00000414333.1:p.Pro197Leu
ENST00000467284.1:n.137C>T
ENST00000473092.5:c.1091C>T	ENSP00000418674.1:p.Pro364Leu
ENST00000477651.5:n.855C>T
NM_001011655.2:c.1091C>T	NP_001011655.1:p.Pro364Leu
NM_001166305.1:c.1232C>T	NP_001159777.1:p.Pro411Leu
NM_001166306.1:c.1087C>T	NP_001159778.1:p.Arg363Cys
NM_138399.4:c.1091C>T	NP_612408.3:p.Pro364Leu
XM_005269371.3:c.1091C>T	XP_005269428.1:p.Pro364Leu
XM_011513318.1:c.1241C>T	XP_011511620.1:p.Pro414Leu
XM_011513319.1:c.1178C>T	XP_011511621.1:p.Pro393Leu
XM_011513320.1:c.1289C>T	XP_011511622.1:p.Pro430Leu
XM_011513321.1:c.1157C>T	XP_011511623.1:p.Pro386Leu
XM_011513322.1:c.1148C>T	XP_011511624.1:p.Pro383Leu
XM_011513323.1:c.986C>T	XP_011511625.1:p.Pro329Leu
XM_005269371.4:c.1091C>T	XP_005269428.1:p.Pro364Leu
XM_011513318.2:c.1241C>T	XP_011511620.1:p.Pro414Leu
XM_011513319.2:c.1178C>T	XP_011511621.1:p.Pro393Leu
XM_011513320.2:c.1289C>T	XP_011511622.1:p.Pro430Leu
XM_011513321.2:c.1157C>T	XP_011511623.1:p.Pro386Leu
XM_011513322.2:c.1148C>T	XP_011511624.1:p.Pro383Leu
XM_017007517.1:c.1100C>T	XP_016863006.1:p.Pro367Leu
XM_017007518.1:c.1100C>T	XP_016863007.1:p.Pro367Leu
NM_001011655.3:c.1091C>T MANE Select	NP_001011655.1:p.Pro364Leu
NM_001166305.2:c.1232C>T	NP_001159777.1:p.Pro411Leu
NM_001166306.2:c.1087C>T	NP_001159778.1:p.Arg363Cys
NM_138399.5:c.1091C>T	NP_612408.3:p.Pro364Leu