Canonical Allele Identifier: CA355824939

Gene: TMEM44

Linked Data

• dbSNP Id: rs1187428370
• gnomAD v4: 3-194604378-T-G
• MyVariant Identifiers: chr3:g.194325107T>G (hg19) ; chr3:g.194604378T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604378T>G , CM000665.2:g.194604378T>G	GRCh38
NC_000003.11:g.194325107T>G , CM000665.1:g.194325107T>G	GRCh37
NC_000003.10:g.195806396T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1085A>C MANE Select	ENSP00000333355.6:p.Asp362Ala
ENST00000347147.8:c.1085A>C	ENSP00000333355.6:p.Asp362Ala
ENST00000381975.7:c.1081A>C	ENSP00000371402.3:p.Thr361Pro
ENST00000392432.6:c.1226A>C	ENSP00000376227.2:p.Asp409Ala
ENST00000419280.5:c.*381A>C	ENSP00000414077.1:n.*381A>C
ENST00000429560.1:c.277A>C	ENSP00000403053.1:p.Thr93Pro
ENST00000432352.5:c.359A>C	ENSP00000409963.1:p.Asp120Ala
ENST00000452358.5:c.584A>C	ENSP00000414333.1:p.Asp195Ala
ENST00000467284.1:n.131A>C
ENST00000473092.5:c.1085A>C	ENSP00000418674.1:p.Asp362Ala
ENST00000477651.5:n.849A>C
NM_001011655.2:c.1085A>C	NP_001011655.1:p.Asp362Ala
NM_001166305.1:c.1226A>C	NP_001159777.1:p.Asp409Ala
NM_001166306.1:c.1081A>C	NP_001159778.1:p.Thr361Pro
NM_138399.4:c.1085A>C	NP_612408.3:p.Asp362Ala
XM_005269371.3:c.1085A>C	XP_005269428.1:p.Asp362Ala
XM_011513318.1:c.1235A>C	XP_011511620.1:p.Asp412Ala
XM_011513319.1:c.1172A>C	XP_011511621.1:p.Asp391Ala
XM_011513320.1:c.1283A>C	XP_011511622.1:p.Asp428Ala
XM_011513321.1:c.1151A>C	XP_011511623.1:p.Asp384Ala
XM_011513322.1:c.1142A>C	XP_011511624.1:p.Asp381Ala
XM_011513323.1:c.980A>C	XP_011511625.1:p.Asp327Ala
XM_005269371.4:c.1085A>C	XP_005269428.1:p.Asp362Ala
XM_011513318.2:c.1235A>C	XP_011511620.1:p.Asp412Ala
XM_011513319.2:c.1172A>C	XP_011511621.1:p.Asp391Ala
XM_011513320.2:c.1283A>C	XP_011511622.1:p.Asp428Ala
XM_011513321.2:c.1151A>C	XP_011511623.1:p.Asp384Ala
XM_011513322.2:c.1142A>C	XP_011511624.1:p.Asp381Ala
XM_017007517.1:c.1094A>C	XP_016863006.1:p.Asp365Ala
XM_017007518.1:c.1094A>C	XP_016863007.1:p.Asp365Ala
NM_001011655.3:c.1085A>C MANE Select	NP_001011655.1:p.Asp362Ala
NM_001166305.2:c.1226A>C	NP_001159777.1:p.Asp409Ala
NM_001166306.2:c.1081A>C	NP_001159778.1:p.Thr361Pro
NM_138399.5:c.1085A>C	NP_612408.3:p.Asp362Ala