Canonical Allele Identifier: CA053446

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 466418
• ClinVar RCV Id: RCV000543452 ; RCV001181851 ; RCV001255532 ; RCV002476153 ; RCV003302839
• dbSNP Id: rs140347235
• ExAC: 3:14174056 G / A
• gnomAD v2: 3-14174056-G-A
• gnomAD v3: 3-14132556-G-A
• gnomAD v4: 3-14132556-G-A
• MyVariant Identifiers: chr3:g.14174056G>A (hg19) ; chr3:g.14132556G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14132556G>A , CM000665.2:g.14132556G>A	GRCh38
NC_000003.11:g.14174056G>A , CM000665.1:g.14174056G>A	GRCh37
NC_000003.10:g.14149057G>A	NCBI36
NG_008975.1:g.12617G>A , LRG_435:g.12617G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*433G>A	ENSP00000395617.1:n.*433G>A
ENST00000306077.5:c.403G>A MANE Select	ENSP00000303992.5:p.Glu135Lys
ENST00000306077.4:c.403G>A	ENSP00000303992.4:p.Glu135Lys
ENST00000432444.1:c.*433G>A	ENSP00000395617.1:n.*433G>A
NM_024334.2:c.403G>A , LRG_435t1:c.403G>A	NP_077310.1:p.Glu135Lys
XM_011534109.1:c.298G>A	XP_011532411.1:p.Glu100Lys
XM_017007176.2:c.298G>A	XP_016862665.1:p.Glu100Lys
NM_024334.3:c.403G>A MANE Select	NP_077310.1:p.Glu135Lys