Canonical Allele Identifier: CA355824861

Gene: TMEM44

Linked Data

• dbSNP Id: rs1280772204
• gnomAD v2: 3-194325078-T-C
• gnomAD v3: 3-194604349-T-C
• gnomAD v4: 3-194604349-T-C
• MyVariant Identifiers: chr3:g.194325078T>C (hg19) ; chr3:g.194604349T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604349T>C , CM000665.2:g.194604349T>C	GRCh38
NC_000003.11:g.194325078T>C , CM000665.1:g.194325078T>C	GRCh37
NC_000003.10:g.195806367T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1114A>G MANE Select	ENSP00000333355.6:p.Ile372Val
ENST00000347147.8:c.1114A>G	ENSP00000333355.6:p.Ile372Val
ENST00000381975.7:c.1110A>G	ENSP00000371402.3:p.Ser370=
ENST00000392432.6:c.1255A>G	ENSP00000376227.2:p.Ile419Val
ENST00000419280.5:c.*410A>G	ENSP00000414077.1:n.*410A>G
ENST00000429560.1:c.306A>G	ENSP00000403053.1:p.Ser102=
ENST00000432352.5:c.388A>G	ENSP00000409963.1:p.Ile130Val
ENST00000452358.5:c.613A>G	ENSP00000414333.1:p.Ile205Val
ENST00000467284.1:n.160A>G
ENST00000473092.5:c.1114A>G	ENSP00000418674.1:p.Ile372Val
ENST00000477651.5:n.878A>G
NM_001011655.2:c.1114A>G	NP_001011655.1:p.Ile372Val
NM_001166305.1:c.1255A>G	NP_001159777.1:p.Ile419Val
NM_001166306.1:c.1110A>G	NP_001159778.1:p.Ser370=
NM_138399.4:c.1114A>G	NP_612408.3:p.Ile372Val
XM_005269371.3:c.1114A>G	XP_005269428.1:p.Ile372Val
XM_011513318.1:c.1264A>G	XP_011511620.1:p.Ile422Val
XM_011513319.1:c.1201A>G	XP_011511621.1:p.Ile401Val
XM_011513320.1:c.1312A>G	XP_011511622.1:p.Ile438Val
XM_011513321.1:c.1180A>G	XP_011511623.1:p.Ile394Val
XM_011513322.1:c.1171A>G	XP_011511624.1:p.Ile391Val
XM_011513323.1:c.1009A>G	XP_011511625.1:p.Ile337Val
XM_005269371.4:c.1114A>G	XP_005269428.1:p.Ile372Val
XM_011513318.2:c.1264A>G	XP_011511620.1:p.Ile422Val
XM_011513319.2:c.1201A>G	XP_011511621.1:p.Ile401Val
XM_011513320.2:c.1312A>G	XP_011511622.1:p.Ile438Val
XM_011513321.2:c.1180A>G	XP_011511623.1:p.Ile394Val
XM_011513322.2:c.1171A>G	XP_011511624.1:p.Ile391Val
XM_017007517.1:c.1123A>G	XP_016863006.1:p.Ile375Val
XM_017007518.1:c.1123A>G	XP_016863007.1:p.Ile375Val
NM_001011655.3:c.1114A>G MANE Select	NP_001011655.1:p.Ile372Val
NM_001166305.2:c.1255A>G	NP_001159777.1:p.Ile419Val
NM_001166306.2:c.1110A>G	NP_001159778.1:p.Ser370=
NM_138399.5:c.1114A>G	NP_612408.3:p.Ile372Val