Canonical Allele Identifier: CA355825046

Gene: TMEM44

Linked Data

• MyVariant Identifiers: chr3:g.194325148T>G (hg19) ; chr3:g.194604419T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604419T>G , CM000665.2:g.194604419T>G	GRCh38
NC_000003.11:g.194325148T>G , CM000665.1:g.194325148T>G	GRCh37
NC_000003.10:g.195806437T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1044A>C MANE Select	ENSP00000333355.6:p.Pro348=
ENST00000347147.8:c.1044A>C	ENSP00000333355.6:p.Pro348=
ENST00000381975.7:c.1040A>C	ENSP00000371402.3:p.Gln347Pro
ENST00000392432.6:c.1185A>C	ENSP00000376227.2:p.Pro395=
ENST00000419280.5:c.*340A>C	ENSP00000414077.1:n.*340A>C
ENST00000429560.1:c.236A>C	ENSP00000403053.1:p.Gln79Pro
ENST00000432352.5:c.318A>C	ENSP00000409963.1:p.Pro106=
ENST00000452358.5:c.543A>C	ENSP00000414333.1:p.Pro181=
ENST00000467284.1:n.90A>C
ENST00000473092.5:c.1044A>C	ENSP00000418674.1:p.Pro348=
ENST00000477651.5:n.808A>C
NM_001011655.2:c.1044A>C	NP_001011655.1:p.Pro348=
NM_001166305.1:c.1185A>C	NP_001159777.1:p.Pro395=
NM_001166306.1:c.1040A>C	NP_001159778.1:p.Gln347Pro
NM_138399.4:c.1044A>C	NP_612408.3:p.Pro348=
XM_005269371.3:c.1044A>C	XP_005269428.1:p.Pro348=
XM_011513318.1:c.1194A>C	XP_011511620.1:p.Pro398=
XM_011513319.1:c.1131A>C	XP_011511621.1:p.Pro377=
XM_011513320.1:c.1242A>C	XP_011511622.1:p.Pro414=
XM_011513321.1:c.1110A>C	XP_011511623.1:p.Pro370=
XM_011513322.1:c.1101A>C	XP_011511624.1:p.Pro367=
XM_011513323.1:c.939A>C	XP_011511625.1:p.Pro313=
XM_005269371.4:c.1044A>C	XP_005269428.1:p.Pro348=
XM_011513318.2:c.1194A>C	XP_011511620.1:p.Pro398=
XM_011513319.2:c.1131A>C	XP_011511621.1:p.Pro377=
XM_011513320.2:c.1242A>C	XP_011511622.1:p.Pro414=
XM_011513321.2:c.1110A>C	XP_011511623.1:p.Pro370=
XM_011513322.2:c.1101A>C	XP_011511624.1:p.Pro367=
XM_017007517.1:c.1053A>C	XP_016863006.1:p.Pro351=
XM_017007518.1:c.1053A>C	XP_016863007.1:p.Pro351=
NM_001011655.3:c.1044A>C MANE Select	NP_001011655.1:p.Pro348=
NM_001166305.2:c.1185A>C	NP_001159777.1:p.Pro395=
NM_001166306.2:c.1040A>C	NP_001159778.1:p.Gln347Pro
NM_138399.5:c.1044A>C	NP_612408.3:p.Pro348=