Canonical Allele Identifier: CA2762538

Gene: TMEM44

Linked Data

• ClinVar Variation Id: 3179488
• ClinVar RCV Id: RCV004467842
• dbSNP Id: rs373869816
• ExAC: 3:194325098 G / C
• gnomAD v2: 3-194325098-G-C
• gnomAD v3: 3-194604369-G-C
• gnomAD v4: 3-194604369-G-C
• MyVariant Identifiers: chr3:g.194325098G>C (hg19) ; chr3:g.194604369G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604369G>C , CM000665.2:g.194604369G>C	GRCh38
NC_000003.11:g.194325098G>C , CM000665.1:g.194325098G>C	GRCh37
NC_000003.10:g.195806387G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1094C>G MANE Select	ENSP00000333355.6:p.Ser365Trp
ENST00000347147.8:c.1094C>G	ENSP00000333355.6:p.Ser365Trp
ENST00000381975.7:c.1090C>G	ENSP00000371402.3:p.Arg364Gly
ENST00000392432.6:c.1235C>G	ENSP00000376227.2:p.Ser412Trp
ENST00000419280.5:c.*390C>G	ENSP00000414077.1:n.*390C>G
ENST00000429560.1:c.286C>G	ENSP00000403053.1:p.Arg96Gly
ENST00000432352.5:c.368C>G	ENSP00000409963.1:p.Ser123Trp
ENST00000452358.5:c.593C>G	ENSP00000414333.1:p.Ser198Trp
ENST00000467284.1:n.140C>G
ENST00000473092.5:c.1094C>G	ENSP00000418674.1:p.Ser365Trp
ENST00000477651.5:n.858C>G
NM_001011655.2:c.1094C>G	NP_001011655.1:p.Ser365Trp
NM_001166305.1:c.1235C>G	NP_001159777.1:p.Ser412Trp
NM_001166306.1:c.1090C>G	NP_001159778.1:p.Arg364Gly
NM_138399.4:c.1094C>G	NP_612408.3:p.Ser365Trp
XM_005269371.3:c.1094C>G	XP_005269428.1:p.Ser365Trp
XM_011513318.1:c.1244C>G	XP_011511620.1:p.Ser415Trp
XM_011513319.1:c.1181C>G	XP_011511621.1:p.Ser394Trp
XM_011513320.1:c.1292C>G	XP_011511622.1:p.Ser431Trp
XM_011513321.1:c.1160C>G	XP_011511623.1:p.Ser387Trp
XM_011513322.1:c.1151C>G	XP_011511624.1:p.Ser384Trp
XM_011513323.1:c.989C>G	XP_011511625.1:p.Ser330Trp
XM_005269371.4:c.1094C>G	XP_005269428.1:p.Ser365Trp
XM_011513318.2:c.1244C>G	XP_011511620.1:p.Ser415Trp
XM_011513319.2:c.1181C>G	XP_011511621.1:p.Ser394Trp
XM_011513320.2:c.1292C>G	XP_011511622.1:p.Ser431Trp
XM_011513321.2:c.1160C>G	XP_011511623.1:p.Ser387Trp
XM_011513322.2:c.1151C>G	XP_011511624.1:p.Ser384Trp
XM_017007517.1:c.1103C>G	XP_016863006.1:p.Ser368Trp
XM_017007518.1:c.1103C>G	XP_016863007.1:p.Ser368Trp
NM_001011655.3:c.1094C>G MANE Select	NP_001011655.1:p.Ser365Trp
NM_001166305.2:c.1235C>G	NP_001159777.1:p.Ser412Trp
NM_001166306.2:c.1090C>G	NP_001159778.1:p.Arg364Gly
NM_138399.5:c.1094C>G	NP_612408.3:p.Ser365Trp