Canonical Allele Identifier: CA355824855

Gene: TMEM44

Linked Data

• gnomAD v4: 3-194604347-G-A
• MyVariant Identifiers: chr3:g.194325076G>A (hg19) ; chr3:g.194604347G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604347G>A , CM000665.2:g.194604347G>A	GRCh38
NC_000003.11:g.194325076G>A , CM000665.1:g.194325076G>A	GRCh37
NC_000003.10:g.195806365G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1116C>T MANE Select	ENSP00000333355.6:p.Ile372=
ENST00000347147.8:c.1116C>T	ENSP00000333355.6:p.Ile372=
ENST00000381975.7:c.1112C>T	ENSP00000371402.3:p.Ser371Phe
ENST00000392432.6:c.1257C>T	ENSP00000376227.2:p.Ile419=
ENST00000419280.5:c.*412C>T	ENSP00000414077.1:n.*412C>T
ENST00000429560.1:c.308C>T	ENSP00000403053.1:p.Ser103Phe
ENST00000432352.5:c.390C>T	ENSP00000409963.1:p.Ile130=
ENST00000452358.5:c.615C>T	ENSP00000414333.1:p.Ile205=
ENST00000467284.1:n.162C>T
ENST00000473092.5:c.1116C>T	ENSP00000418674.1:p.Ile372=
ENST00000477651.5:n.880C>T
NM_001011655.2:c.1116C>T	NP_001011655.1:p.Ile372=
NM_001166305.1:c.1257C>T	NP_001159777.1:p.Ile419=
NM_001166306.1:c.1112C>T	NP_001159778.1:p.Ser371Phe
NM_138399.4:c.1116C>T	NP_612408.3:p.Ile372=
XM_005269371.3:c.1116C>T	XP_005269428.1:p.Ile372=
XM_011513318.1:c.1266C>T	XP_011511620.1:p.Ile422=
XM_011513319.1:c.1203C>T	XP_011511621.1:p.Ile401=
XM_011513320.1:c.1314C>T	XP_011511622.1:p.Ile438=
XM_011513321.1:c.1182C>T	XP_011511623.1:p.Ile394=
XM_011513322.1:c.1173C>T	XP_011511624.1:p.Ile391=
XM_011513323.1:c.1011C>T	XP_011511625.1:p.Ile337=
XM_005269371.4:c.1116C>T	XP_005269428.1:p.Ile372=
XM_011513318.2:c.1266C>T	XP_011511620.1:p.Ile422=
XM_011513319.2:c.1203C>T	XP_011511621.1:p.Ile401=
XM_011513320.2:c.1314C>T	XP_011511622.1:p.Ile438=
XM_011513321.2:c.1182C>T	XP_011511623.1:p.Ile394=
XM_011513322.2:c.1173C>T	XP_011511624.1:p.Ile391=
XM_017007517.1:c.1125C>T	XP_016863006.1:p.Ile375=
XM_017007518.1:c.1125C>T	XP_016863007.1:p.Ile375=
NM_001011655.3:c.1116C>T MANE Select	NP_001011655.1:p.Ile372=
NM_001166305.2:c.1257C>T	NP_001159777.1:p.Ile419=
NM_001166306.2:c.1112C>T	NP_001159778.1:p.Ser371Phe
NM_138399.5:c.1116C>T	NP_612408.3:p.Ile372=