Canonical Allele Identifier: CA355825031

Gene: TMEM44

Linked Data

• gnomAD v4: 3-194604413-G-T
• MyVariant Identifiers: chr3:g.194325142G>T (hg19) ; chr3:g.194604413G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604413G>T , CM000665.2:g.194604413G>T	GRCh38
NC_000003.11:g.194325142G>T , CM000665.1:g.194325142G>T	GRCh37
NC_000003.10:g.195806431G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1050C>A MANE Select	ENSP00000333355.6:p.Asp350Glu
ENST00000347147.8:c.1050C>A	ENSP00000333355.6:p.Asp350Glu
ENST00000381975.7:c.1046C>A	ENSP00000371402.3:p.Thr349Lys
ENST00000392432.6:c.1191C>A	ENSP00000376227.2:p.Asp397Glu
ENST00000419280.5:c.*346C>A	ENSP00000414077.1:n.*346C>A
ENST00000429560.1:c.242C>A	ENSP00000403053.1:p.Thr81Lys
ENST00000432352.5:c.324C>A	ENSP00000409963.1:p.Asp108Glu
ENST00000452358.5:c.549C>A	ENSP00000414333.1:p.Asp183Glu
ENST00000467284.1:n.96C>A
ENST00000473092.5:c.1050C>A	ENSP00000418674.1:p.Asp350Glu
ENST00000477651.5:n.814C>A
NM_001011655.2:c.1050C>A	NP_001011655.1:p.Asp350Glu
NM_001166305.1:c.1191C>A	NP_001159777.1:p.Asp397Glu
NM_001166306.1:c.1046C>A	NP_001159778.1:p.Thr349Lys
NM_138399.4:c.1050C>A	NP_612408.3:p.Asp350Glu
XM_005269371.3:c.1050C>A	XP_005269428.1:p.Asp350Glu
XM_011513318.1:c.1200C>A	XP_011511620.1:p.Asp400Glu
XM_011513319.1:c.1137C>A	XP_011511621.1:p.Asp379Glu
XM_011513320.1:c.1248C>A	XP_011511622.1:p.Asp416Glu
XM_011513321.1:c.1116C>A	XP_011511623.1:p.Asp372Glu
XM_011513322.1:c.1107C>A	XP_011511624.1:p.Asp369Glu
XM_011513323.1:c.945C>A	XP_011511625.1:p.Asp315Glu
XM_005269371.4:c.1050C>A	XP_005269428.1:p.Asp350Glu
XM_011513318.2:c.1200C>A	XP_011511620.1:p.Asp400Glu
XM_011513319.2:c.1137C>A	XP_011511621.1:p.Asp379Glu
XM_011513320.2:c.1248C>A	XP_011511622.1:p.Asp416Glu
XM_011513321.2:c.1116C>A	XP_011511623.1:p.Asp372Glu
XM_011513322.2:c.1107C>A	XP_011511624.1:p.Asp369Glu
XM_017007517.1:c.1059C>A	XP_016863006.1:p.Asp353Glu
XM_017007518.1:c.1059C>A	XP_016863007.1:p.Asp353Glu
NM_001011655.3:c.1050C>A MANE Select	NP_001011655.1:p.Asp350Glu
NM_001166305.2:c.1191C>A	NP_001159777.1:p.Asp397Glu
NM_001166306.2:c.1046C>A	NP_001159778.1:p.Thr349Lys
NM_138399.5:c.1050C>A	NP_612408.3:p.Asp350Glu