Canonical Allele Identifier: CA056258

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 263617
• ClinVar RCV Id: RCV000244386 ; RCV000707015 ; RCV002494784 ; RCV001183765
• dbSNP Id: rs754536393
• ExAC: 3:14170990 G / A
• gnomAD v2: 3-14170990-G-A
• gnomAD v3: 3-14129490-G-A
• gnomAD v4: 3-14129490-G-A
• MyVariant Identifiers: chr3:g.14170990G>A (hg19) ; chr3:g.14129490G>A (hg38)
• PubMed: PMID:25351510

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14129490G>A , CM000665.2:g.14129490G>A	GRCh38
NC_000003.11:g.14170990G>A , CM000665.1:g.14170990G>A	GRCh37
NC_000003.10:g.14145991G>A	NCBI36
NG_008975.1:g.9551G>A , LRG_435:g.9551G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*121G>A	ENSP00000395617.1:n.*121G>A
ENST00000306077.5:c.91G>A MANE Select	ENSP00000303992.5:p.Glu31Lys
ENST00000306077.4:c.91G>A	ENSP00000303992.4:p.Glu31Lys
ENST00000432444.1:c.*121G>A	ENSP00000395617.1:n.*121G>A
NM_024334.2:c.91G>A , LRG_435t1:c.91G>A	NP_077310.1:p.Glu31Lys
XM_011534109.1:c.-15G>A	XP_011532411.1:n.-15G>A
XM_017007176.2:c.-15G>A	XP_016862665.1:n.-15G>A
NM_024334.3:c.91G>A MANE Select	NP_077310.1:p.Glu31Lys