Canonical Allele Identifier: CA355824863

Gene: TMEM44

Linked Data

• gnomAD v4: 3-194604350-G-A
• MyVariant Identifiers: chr3:g.194325079G>A (hg19) ; chr3:g.194604350G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604350G>A , CM000665.2:g.194604350G>A	GRCh38
NC_000003.11:g.194325079G>A , CM000665.1:g.194325079G>A	GRCh37
NC_000003.10:g.195806368G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1113C>T MANE Select	ENSP00000333355.6:p.Val371=
ENST00000347147.8:c.1113C>T	ENSP00000333355.6:p.Val371=
ENST00000381975.7:c.1109C>T	ENSP00000371402.3:p.Ser370Leu
ENST00000392432.6:c.1254C>T	ENSP00000376227.2:p.Val418=
ENST00000419280.5:c.*409C>T	ENSP00000414077.1:n.*409C>T
ENST00000429560.1:c.305C>T	ENSP00000403053.1:p.Ser102Leu
ENST00000432352.5:c.387C>T	ENSP00000409963.1:p.Val129=
ENST00000452358.5:c.612C>T	ENSP00000414333.1:p.Val204=
ENST00000467284.1:n.159C>T
ENST00000473092.5:c.1113C>T	ENSP00000418674.1:p.Val371=
ENST00000477651.5:n.877C>T
NM_001011655.2:c.1113C>T	NP_001011655.1:p.Val371=
NM_001166305.1:c.1254C>T	NP_001159777.1:p.Val418=
NM_001166306.1:c.1109C>T	NP_001159778.1:p.Ser370Leu
NM_138399.4:c.1113C>T	NP_612408.3:p.Val371=
XM_005269371.3:c.1113C>T	XP_005269428.1:p.Val371=
XM_011513318.1:c.1263C>T	XP_011511620.1:p.Val421=
XM_011513319.1:c.1200C>T	XP_011511621.1:p.Val400=
XM_011513320.1:c.1311C>T	XP_011511622.1:p.Val437=
XM_011513321.1:c.1179C>T	XP_011511623.1:p.Val393=
XM_011513322.1:c.1170C>T	XP_011511624.1:p.Val390=
XM_011513323.1:c.1008C>T	XP_011511625.1:p.Val336=
XM_005269371.4:c.1113C>T	XP_005269428.1:p.Val371=
XM_011513318.2:c.1263C>T	XP_011511620.1:p.Val421=
XM_011513319.2:c.1200C>T	XP_011511621.1:p.Val400=
XM_011513320.2:c.1311C>T	XP_011511622.1:p.Val437=
XM_011513321.2:c.1179C>T	XP_011511623.1:p.Val393=
XM_011513322.2:c.1170C>T	XP_011511624.1:p.Val390=
XM_017007517.1:c.1122C>T	XP_016863006.1:p.Val374=
XM_017007518.1:c.1122C>T	XP_016863007.1:p.Val374=
NM_001011655.3:c.1113C>T MANE Select	NP_001011655.1:p.Val371=
NM_001166305.2:c.1254C>T	NP_001159777.1:p.Val418=
NM_001166306.2:c.1109C>T	NP_001159778.1:p.Ser370Leu
NM_138399.5:c.1113C>T	NP_612408.3:p.Val371=