Canonical Allele Identifier: CA355824952

Gene: TMEM44

Linked Data

• gnomAD v4: 3-194604383-C-A
• MyVariant Identifiers: chr3:g.194325112C>A (hg19) ; chr3:g.194604383C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604383C>A , CM000665.2:g.194604383C>A	GRCh38
NC_000003.11:g.194325112C>A , CM000665.1:g.194325112C>A	GRCh37
NC_000003.10:g.195806401C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1080G>T MANE Select	ENSP00000333355.6:p.Leu360=
ENST00000347147.8:c.1080G>T	ENSP00000333355.6:p.Leu360=
ENST00000381975.7:c.1076G>T	ENSP00000371402.3:p.Cys359Phe
ENST00000392432.6:c.1221G>T	ENSP00000376227.2:p.Leu407=
ENST00000419280.5:c.*376G>T	ENSP00000414077.1:n.*376G>T
ENST00000429560.1:c.272G>T	ENSP00000403053.1:p.Cys91Phe
ENST00000432352.5:c.354G>T	ENSP00000409963.1:p.Leu118=
ENST00000452358.5:c.579G>T	ENSP00000414333.1:p.Leu193=
ENST00000467284.1:n.126G>T
ENST00000473092.5:c.1080G>T	ENSP00000418674.1:p.Leu360=
ENST00000477651.5:n.844G>T
NM_001011655.2:c.1080G>T	NP_001011655.1:p.Leu360=
NM_001166305.1:c.1221G>T	NP_001159777.1:p.Leu407=
NM_001166306.1:c.1076G>T	NP_001159778.1:p.Cys359Phe
NM_138399.4:c.1080G>T	NP_612408.3:p.Leu360=
XM_005269371.3:c.1080G>T	XP_005269428.1:p.Leu360=
XM_011513318.1:c.1230G>T	XP_011511620.1:p.Leu410=
XM_011513319.1:c.1167G>T	XP_011511621.1:p.Leu389=
XM_011513320.1:c.1278G>T	XP_011511622.1:p.Leu426=
XM_011513321.1:c.1146G>T	XP_011511623.1:p.Leu382=
XM_011513322.1:c.1137G>T	XP_011511624.1:p.Leu379=
XM_011513323.1:c.975G>T	XP_011511625.1:p.Leu325=
XM_005269371.4:c.1080G>T	XP_005269428.1:p.Leu360=
XM_011513318.2:c.1230G>T	XP_011511620.1:p.Leu410=
XM_011513319.2:c.1167G>T	XP_011511621.1:p.Leu389=
XM_011513320.2:c.1278G>T	XP_011511622.1:p.Leu426=
XM_011513321.2:c.1146G>T	XP_011511623.1:p.Leu382=
XM_011513322.2:c.1137G>T	XP_011511624.1:p.Leu379=
XM_017007517.1:c.1089G>T	XP_016863006.1:p.Leu363=
XM_017007518.1:c.1089G>T	XP_016863007.1:p.Leu363=
NM_001011655.3:c.1080G>T MANE Select	NP_001011655.1:p.Leu360=
NM_001166305.2:c.1221G>T	NP_001159777.1:p.Leu407=
NM_001166306.2:c.1076G>T	NP_001159778.1:p.Cys359Phe
NM_138399.5:c.1080G>T	NP_612408.3:p.Leu360=