Canonical Allele Identifier: CA2762536

Gene: TMEM44

Linked Data

• dbSNP Id: rs766152657
• ExAC: 3:194325090 G / T
• gnomAD v2: 3-194325090-G-T
• gnomAD v4: 3-194604361-G-T
• MyVariant Identifiers: chr3:g.194325090G>T (hg19) ; chr3:g.194604361G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604361G>T , CM000665.2:g.194604361G>T	GRCh38
NC_000003.11:g.194325090G>T , CM000665.1:g.194325090G>T	GRCh37
NC_000003.10:g.195806379G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1102C>A MANE Select	ENSP00000333355.6:p.Pro368Thr
ENST00000347147.8:c.1102C>A	ENSP00000333355.6:p.Pro368Thr
ENST00000381975.7:c.1098C>A	ENSP00000371402.3:p.Leu366=
ENST00000392432.6:c.1243C>A	ENSP00000376227.2:p.Pro415Thr
ENST00000419280.5:c.*398C>A	ENSP00000414077.1:n.*398C>A
ENST00000429560.1:c.294C>A	ENSP00000403053.1:p.Leu98=
ENST00000432352.5:c.376C>A	ENSP00000409963.1:p.Pro126Thr
ENST00000452358.5:c.601C>A	ENSP00000414333.1:p.Pro201Thr
ENST00000467284.1:n.148C>A
ENST00000473092.5:c.1102C>A	ENSP00000418674.1:p.Pro368Thr
ENST00000477651.5:n.866C>A
NM_001011655.2:c.1102C>A	NP_001011655.1:p.Pro368Thr
NM_001166305.1:c.1243C>A	NP_001159777.1:p.Pro415Thr
NM_001166306.1:c.1098C>A	NP_001159778.1:p.Leu366=
NM_138399.4:c.1102C>A	NP_612408.3:p.Pro368Thr
XM_005269371.3:c.1102C>A	XP_005269428.1:p.Pro368Thr
XM_011513318.1:c.1252C>A	XP_011511620.1:p.Pro418Thr
XM_011513319.1:c.1189C>A	XP_011511621.1:p.Pro397Thr
XM_011513320.1:c.1300C>A	XP_011511622.1:p.Pro434Thr
XM_011513321.1:c.1168C>A	XP_011511623.1:p.Pro390Thr
XM_011513322.1:c.1159C>A	XP_011511624.1:p.Pro387Thr
XM_011513323.1:c.997C>A	XP_011511625.1:p.Pro333Thr
XM_005269371.4:c.1102C>A	XP_005269428.1:p.Pro368Thr
XM_011513318.2:c.1252C>A	XP_011511620.1:p.Pro418Thr
XM_011513319.2:c.1189C>A	XP_011511621.1:p.Pro397Thr
XM_011513320.2:c.1300C>A	XP_011511622.1:p.Pro434Thr
XM_011513321.2:c.1168C>A	XP_011511623.1:p.Pro390Thr
XM_011513322.2:c.1159C>A	XP_011511624.1:p.Pro387Thr
XM_017007517.1:c.1111C>A	XP_016863006.1:p.Pro371Thr
XM_017007518.1:c.1111C>A	XP_016863007.1:p.Pro371Thr
NM_001011655.3:c.1102C>A MANE Select	NP_001011655.1:p.Pro368Thr
NM_001166305.2:c.1243C>A	NP_001159777.1:p.Pro415Thr
NM_001166306.2:c.1098C>A	NP_001159778.1:p.Leu366=
NM_138399.5:c.1102C>A	NP_612408.3:p.Pro368Thr