Canonical Allele Identifier: CA2762534

Gene: TMEM44

Linked Data

• dbSNP Id: rs149163449
• ExAC: 3:194325080 A / G
• gnomAD v2: 3-194325080-A-G
• gnomAD v3: 3-194604351-A-G
• gnomAD v4: 3-194604351-A-G
• MyVariant Identifiers: chr3:g.194325080A>G (hg19) ; chr3:g.194604351A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604351A>G , CM000665.2:g.194604351A>G	GRCh38
NC_000003.11:g.194325080A>G , CM000665.1:g.194325080A>G	GRCh37
NC_000003.10:g.195806369A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1112T>C MANE Select	ENSP00000333355.6:p.Val371Ala
ENST00000347147.8:c.1112T>C	ENSP00000333355.6:p.Val371Ala
ENST00000381975.7:c.1108T>C	ENSP00000371402.3:p.Ser370Pro
ENST00000392432.6:c.1253T>C	ENSP00000376227.2:p.Val418Ala
ENST00000419280.5:c.*408T>C	ENSP00000414077.1:n.*408T>C
ENST00000429560.1:c.304T>C	ENSP00000403053.1:p.Ser102Pro
ENST00000432352.5:c.386T>C	ENSP00000409963.1:p.Val129Ala
ENST00000452358.5:c.611T>C	ENSP00000414333.1:p.Val204Ala
ENST00000467284.1:n.158T>C
ENST00000473092.5:c.1112T>C	ENSP00000418674.1:p.Val371Ala
ENST00000477651.5:n.876T>C
NM_001011655.2:c.1112T>C	NP_001011655.1:p.Val371Ala
NM_001166305.1:c.1253T>C	NP_001159777.1:p.Val418Ala
NM_001166306.1:c.1108T>C	NP_001159778.1:p.Ser370Pro
NM_138399.4:c.1112T>C	NP_612408.3:p.Val371Ala
XM_005269371.3:c.1112T>C	XP_005269428.1:p.Val371Ala
XM_011513318.1:c.1262T>C	XP_011511620.1:p.Val421Ala
XM_011513319.1:c.1199T>C	XP_011511621.1:p.Val400Ala
XM_011513320.1:c.1310T>C	XP_011511622.1:p.Val437Ala
XM_011513321.1:c.1178T>C	XP_011511623.1:p.Val393Ala
XM_011513322.1:c.1169T>C	XP_011511624.1:p.Val390Ala
XM_011513323.1:c.1007T>C	XP_011511625.1:p.Val336Ala
XM_005269371.4:c.1112T>C	XP_005269428.1:p.Val371Ala
XM_011513318.2:c.1262T>C	XP_011511620.1:p.Val421Ala
XM_011513319.2:c.1199T>C	XP_011511621.1:p.Val400Ala
XM_011513320.2:c.1310T>C	XP_011511622.1:p.Val437Ala
XM_011513321.2:c.1178T>C	XP_011511623.1:p.Val393Ala
XM_011513322.2:c.1169T>C	XP_011511624.1:p.Val390Ala
XM_017007517.1:c.1121T>C	XP_016863006.1:p.Val374Ala
XM_017007518.1:c.1121T>C	XP_016863007.1:p.Val374Ala
NM_001011655.3:c.1112T>C MANE Select	NP_001011655.1:p.Val371Ala
NM_001166305.2:c.1253T>C	NP_001159777.1:p.Val418Ala
NM_001166306.2:c.1108T>C	NP_001159778.1:p.Ser370Pro
NM_138399.5:c.1112T>C	NP_612408.3:p.Val371Ala