Canonical Allele Identifier: CA90641499

Gene: TMEM44

Linked Data

• dbSNP Id: rs370371509
• gnomAD v2: 3-194325150-G-A
• gnomAD v3: 3-194604421-G-A
• gnomAD v4: 3-194604421-G-A
• MyVariant Identifiers: chr3:g.194325150G>A (hg19) ; chr3:g.194604421G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604421G>A , CM000665.2:g.194604421G>A	GRCh38
NC_000003.11:g.194325150G>A , CM000665.1:g.194325150G>A	GRCh37
NC_000003.10:g.195806439G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1042C>T MANE Select	ENSP00000333355.6:p.Pro348Ser
ENST00000347147.8:c.1042C>T	ENSP00000333355.6:p.Pro348Ser
ENST00000381975.7:c.1038C>T	ENSP00000371402.3:p.Cys346=
ENST00000392432.6:c.1183C>T	ENSP00000376227.2:p.Pro395Ser
ENST00000419280.5:c.*338C>T	ENSP00000414077.1:n.*338C>T
ENST00000429560.1:c.234C>T	ENSP00000403053.1:p.Cys78=
ENST00000432352.5:c.316C>T	ENSP00000409963.1:p.Pro106Ser
ENST00000452358.5:c.541C>T	ENSP00000414333.1:p.Pro181Ser
ENST00000467284.1:n.88C>T
ENST00000473092.5:c.1042C>T	ENSP00000418674.1:p.Pro348Ser
ENST00000477651.5:n.806C>T
NM_001011655.2:c.1042C>T	NP_001011655.1:p.Pro348Ser
NM_001166305.1:c.1183C>T	NP_001159777.1:p.Pro395Ser
NM_001166306.1:c.1038C>T	NP_001159778.1:p.Cys346=
NM_138399.4:c.1042C>T	NP_612408.3:p.Pro348Ser
XM_005269371.3:c.1042C>T	XP_005269428.1:p.Pro348Ser
XM_011513318.1:c.1192C>T	XP_011511620.1:p.Pro398Ser
XM_011513319.1:c.1129C>T	XP_011511621.1:p.Pro377Ser
XM_011513320.1:c.1240C>T	XP_011511622.1:p.Pro414Ser
XM_011513321.1:c.1108C>T	XP_011511623.1:p.Pro370Ser
XM_011513322.1:c.1099C>T	XP_011511624.1:p.Pro367Ser
XM_011513323.1:c.937C>T	XP_011511625.1:p.Pro313Ser
XM_005269371.4:c.1042C>T	XP_005269428.1:p.Pro348Ser
XM_011513318.2:c.1192C>T	XP_011511620.1:p.Pro398Ser
XM_011513319.2:c.1129C>T	XP_011511621.1:p.Pro377Ser
XM_011513320.2:c.1240C>T	XP_011511622.1:p.Pro414Ser
XM_011513321.2:c.1108C>T	XP_011511623.1:p.Pro370Ser
XM_011513322.2:c.1099C>T	XP_011511624.1:p.Pro367Ser
XM_017007517.1:c.1051C>T	XP_016863006.1:p.Pro351Ser
XM_017007518.1:c.1051C>T	XP_016863007.1:p.Pro351Ser
NM_001011655.3:c.1042C>T MANE Select	NP_001011655.1:p.Pro348Ser
NM_001166305.2:c.1183C>T	NP_001159777.1:p.Pro395Ser
NM_001166306.2:c.1038C>T	NP_001159778.1:p.Cys346=
NM_138399.5:c.1042C>T	NP_612408.3:p.Pro348Ser