Canonical Allele Identifier: CA8751290

Gene: TMEM104

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74785554G>A , CM000679.2:g.74785554G>A	GRCh38
NC_000017.10:g.72781693G>A , CM000679.1:g.72781693G>A	GRCh37
NC_000017.9:g.70293288G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_017728.4:c.118G>A MANE Select	NP_060198.3:p.Ala40Thr
ENST00000335464.10:c.118G>A MANE Select	ENSP00000334849.5:p.Ala40Thr
NM_001321264.1:c.118G>A	NP_001308193.1:p.Ala40Thr
NM_001321264.2:c.118G>A	NP_001308193.1:p.Ala40Thr
NM_001321264.3:c.118G>A	NP_001308193.1:p.Ala40Thr
NM_017728.3:c.118G>A	NP_060198.3:p.Ala40Thr
ENST00000335464.9:c.118G>A	ENSP00000334849.5:p.Ala40Thr
ENST00000417024.6:c.207-3235G>A	ENSP00000397676.2:n.207-3235G>A
ENST00000578764.5:c.46-4646G>A	ENSP00000463774.1:n.46-4646G>A
ENST00000582330.1:c.118G>A	ENSP00000461922.1:p.Ala40Thr
ENST00000582330.2:c.118G>A	ENSP00000461922.1:p.Ala40Thr
ENST00000582773.5:c.118G>A	ENSP00000463205.1:p.Ala40Thr
ENST00000584246.1:n.254G>A
XM_005257481.2:c.118G>A	XP_005257538.1:p.Ala40Thr
XM_006721963.1:c.118G>A	XP_006722026.1:p.Ala40Thr
XM_006721963.2:c.118G>A	XP_006722026.1:p.Ala40Thr
XM_017024797.1:c.-272G>A	XP_016880286.1:n.-272G>A
XM_017024798.2:c.118G>A	XP_016880287.1:p.Ala40Thr
XM_017024799.2:c.118G>A	XP_016880288.1:p.Ala40Thr