Canonical Allele Identifier: CA90641500

Gene: TMEM44

Linked Data

• dbSNP Id: rs922159875
• gnomAD v2: 3-194325151-C-A
• gnomAD v3: 3-194604422-C-A
• gnomAD v4: 3-194604422-C-A
• MyVariant Identifiers: chr3:g.194325151C>A (hg19) ; chr3:g.194604422C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604422C>A , CM000665.2:g.194604422C>A	GRCh38
NC_000003.11:g.194325151C>A , CM000665.1:g.194325151C>A	GRCh37
NC_000003.10:g.195806440C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1041G>T MANE Select	ENSP00000333355.6:p.Leu347=
ENST00000347147.8:c.1041G>T	ENSP00000333355.6:p.Leu347=
ENST00000381975.7:c.1037G>T	ENSP00000371402.3:p.Cys346Phe
ENST00000392432.6:c.1182G>T	ENSP00000376227.2:p.Leu394=
ENST00000419280.5:c.*337G>T	ENSP00000414077.1:n.*337G>T
ENST00000429560.1:c.233G>T	ENSP00000403053.1:p.Cys78Phe
ENST00000432352.5:c.315G>T	ENSP00000409963.1:p.Leu105=
ENST00000452358.5:c.540G>T	ENSP00000414333.1:p.Leu180=
ENST00000467284.1:n.87G>T
ENST00000473092.5:c.1041G>T	ENSP00000418674.1:p.Leu347=
ENST00000477651.5:n.805G>T
NM_001011655.2:c.1041G>T	NP_001011655.1:p.Leu347=
NM_001166305.1:c.1182G>T	NP_001159777.1:p.Leu394=
NM_001166306.1:c.1037G>T	NP_001159778.1:p.Cys346Phe
NM_138399.4:c.1041G>T	NP_612408.3:p.Leu347=
XM_005269371.3:c.1041G>T	XP_005269428.1:p.Leu347=
XM_011513318.1:c.1191G>T	XP_011511620.1:p.Leu397=
XM_011513319.1:c.1128G>T	XP_011511621.1:p.Leu376=
XM_011513320.1:c.1239G>T	XP_011511622.1:p.Leu413=
XM_011513321.1:c.1107G>T	XP_011511623.1:p.Leu369=
XM_011513322.1:c.1098G>T	XP_011511624.1:p.Leu366=
XM_011513323.1:c.936G>T	XP_011511625.1:p.Leu312=
XM_005269371.4:c.1041G>T	XP_005269428.1:p.Leu347=
XM_011513318.2:c.1191G>T	XP_011511620.1:p.Leu397=
XM_011513319.2:c.1128G>T	XP_011511621.1:p.Leu376=
XM_011513320.2:c.1239G>T	XP_011511622.1:p.Leu413=
XM_011513321.2:c.1107G>T	XP_011511623.1:p.Leu369=
XM_011513322.2:c.1098G>T	XP_011511624.1:p.Leu366=
XM_017007517.1:c.1050G>T	XP_016863006.1:p.Leu350=
XM_017007518.1:c.1050G>T	XP_016863007.1:p.Leu350=
NM_001011655.3:c.1041G>T MANE Select	NP_001011655.1:p.Leu347=
NM_001166305.2:c.1182G>T	NP_001159777.1:p.Leu394=
NM_001166306.2:c.1037G>T	NP_001159778.1:p.Cys346Phe
NM_138399.5:c.1041G>T	NP_612408.3:p.Leu347=