Canonical Allele Identifier: CA355824904

Gene: TMEM44

Linked Data

• gnomAD v4: 3-194604365-G-A
• MyVariant Identifiers: chr3:g.194325094G>A (hg19) ; chr3:g.194604365G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604365G>A , CM000665.2:g.194604365G>A	GRCh38
NC_000003.11:g.194325094G>A , CM000665.1:g.194325094G>A	GRCh37
NC_000003.10:g.195806383G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1098C>T MANE Select	ENSP00000333355.6:p.Tyr366=
ENST00000347147.8:c.1098C>T	ENSP00000333355.6:p.Tyr366=
ENST00000381975.7:c.1094C>T	ENSP00000371402.3:p.Thr365Ile
ENST00000392432.6:c.1239C>T	ENSP00000376227.2:p.Tyr413=
ENST00000419280.5:c.*394C>T	ENSP00000414077.1:n.*394C>T
ENST00000429560.1:c.290C>T	ENSP00000403053.1:p.Thr97Ile
ENST00000432352.5:c.372C>T	ENSP00000409963.1:p.Tyr124=
ENST00000452358.5:c.597C>T	ENSP00000414333.1:p.Tyr199=
ENST00000467284.1:n.144C>T
ENST00000473092.5:c.1098C>T	ENSP00000418674.1:p.Tyr366=
ENST00000477651.5:n.862C>T
NM_001011655.2:c.1098C>T	NP_001011655.1:p.Tyr366=
NM_001166305.1:c.1239C>T	NP_001159777.1:p.Tyr413=
NM_001166306.1:c.1094C>T	NP_001159778.1:p.Thr365Ile
NM_138399.4:c.1098C>T	NP_612408.3:p.Tyr366=
XM_005269371.3:c.1098C>T	XP_005269428.1:p.Tyr366=
XM_011513318.1:c.1248C>T	XP_011511620.1:p.Tyr416=
XM_011513319.1:c.1185C>T	XP_011511621.1:p.Tyr395=
XM_011513320.1:c.1296C>T	XP_011511622.1:p.Tyr432=
XM_011513321.1:c.1164C>T	XP_011511623.1:p.Tyr388=
XM_011513322.1:c.1155C>T	XP_011511624.1:p.Tyr385=
XM_011513323.1:c.993C>T	XP_011511625.1:p.Tyr331=
XM_005269371.4:c.1098C>T	XP_005269428.1:p.Tyr366=
XM_011513318.2:c.1248C>T	XP_011511620.1:p.Tyr416=
XM_011513319.2:c.1185C>T	XP_011511621.1:p.Tyr395=
XM_011513320.2:c.1296C>T	XP_011511622.1:p.Tyr432=
XM_011513321.2:c.1164C>T	XP_011511623.1:p.Tyr388=
XM_011513322.2:c.1155C>T	XP_011511624.1:p.Tyr385=
XM_017007517.1:c.1107C>T	XP_016863006.1:p.Tyr369=
XM_017007518.1:c.1107C>T	XP_016863007.1:p.Tyr369=
NM_001011655.3:c.1098C>T MANE Select	NP_001011655.1:p.Tyr366=
NM_001166305.2:c.1239C>T	NP_001159777.1:p.Tyr413=
NM_001166306.2:c.1094C>T	NP_001159778.1:p.Thr365Ile
NM_138399.5:c.1098C>T	NP_612408.3:p.Tyr366=