Canonical Allele Identifier: CA2762539

Gene: TMEM44

Linked Data

• dbSNP Id: rs200692095
• ExAC: 3:194325100 C / T
• gnomAD v2: 3-194325100-C-T
• gnomAD v3: 3-194604371-C-T
• gnomAD v4: 3-194604371-C-T
• MyVariant Identifiers: chr3:g.194325100C>T (hg19) ; chr3:g.194325100_194325101delinsTG (hg19) ; chr3:g.194604371C>T (hg38) ; chr3:g.194604371_194604372delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604371C>T , CM000665.2:g.194604371C>T	GRCh38
NC_000003.11:g.194325100C>T , CM000665.1:g.194325100C>T	GRCh37
NC_000003.10:g.195806389C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1092G>A MANE Select	ENSP00000333355.6:p.Pro364=
ENST00000347147.8:c.1092G>A	ENSP00000333355.6:p.Pro364=
ENST00000381975.7:c.1088G>A	ENSP00000371402.3:p.Arg363His
ENST00000392432.6:c.1233G>A	ENSP00000376227.2:p.Pro411=
ENST00000419280.5:c.*388G>A	ENSP00000414077.1:n.*388G>A
ENST00000429560.1:c.284G>A	ENSP00000403053.1:p.Arg95His
ENST00000432352.5:c.366G>A	ENSP00000409963.1:p.Pro122=
ENST00000452358.5:c.591G>A	ENSP00000414333.1:p.Pro197=
ENST00000467284.1:n.138G>A
ENST00000473092.5:c.1092G>A	ENSP00000418674.1:p.Pro364=
ENST00000477651.5:n.856G>A
NM_001011655.2:c.1092G>A	NP_001011655.1:p.Pro364=
NM_001166305.1:c.1233G>A	NP_001159777.1:p.Pro411=
NM_001166306.1:c.1088G>A	NP_001159778.1:p.Arg363His
NM_138399.4:c.1092G>A	NP_612408.3:p.Pro364=
XM_005269371.3:c.1092G>A	XP_005269428.1:p.Pro364=
XM_011513318.1:c.1242G>A	XP_011511620.1:p.Pro414=
XM_011513319.1:c.1179G>A	XP_011511621.1:p.Pro393=
XM_011513320.1:c.1290G>A	XP_011511622.1:p.Pro430=
XM_011513321.1:c.1158G>A	XP_011511623.1:p.Pro386=
XM_011513322.1:c.1149G>A	XP_011511624.1:p.Pro383=
XM_011513323.1:c.987G>A	XP_011511625.1:p.Pro329=
XM_005269371.4:c.1092G>A	XP_005269428.1:p.Pro364=
XM_011513318.2:c.1242G>A	XP_011511620.1:p.Pro414=
XM_011513319.2:c.1179G>A	XP_011511621.1:p.Pro393=
XM_011513320.2:c.1290G>A	XP_011511622.1:p.Pro430=
XM_011513321.2:c.1158G>A	XP_011511623.1:p.Pro386=
XM_011513322.2:c.1149G>A	XP_011511624.1:p.Pro383=
XM_017007517.1:c.1101G>A	XP_016863006.1:p.Pro367=
XM_017007518.1:c.1101G>A	XP_016863007.1:p.Pro367=
NM_001011655.3:c.1092G>A MANE Select	NP_001011655.1:p.Pro364=
NM_001166305.2:c.1233G>A	NP_001159777.1:p.Pro411=
NM_001166306.2:c.1088G>A	NP_001159778.1:p.Arg363His
NM_138399.5:c.1092G>A	NP_612408.3:p.Pro364=