Canonical Allele Identifier: CA024600

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 191780
• ClinVar RCV Id: RCV000172113 ; RCV000770178 ; RCV001047322 ; RCV002362882 ; RCV002492722
• dbSNP Id: rs144334386
• ExAC: 3:14171020 A / G
• gnomAD v2: 3-14171020-A-G
• gnomAD v3: 3-14129520-A-G
• gnomAD v4: 3-14129520-A-G
• MyVariant Identifiers: chr3:g.14171020A>G (hg19) ; chr3:g.14129520A>G (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14129520A>G , CM000665.2:g.14129520A>G	GRCh38
NC_000003.11:g.14171020A>G , CM000665.1:g.14171020A>G	GRCh37
NC_000003.10:g.14146021A>G	NCBI36
NG_008975.1:g.9581A>G , LRG_435:g.9581A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*151A>G	ENSP00000395617.1:n.*151A>G
ENST00000306077.5:c.121A>G MANE Select	ENSP00000303992.5:p.Met41Val
ENST00000306077.4:c.121A>G	ENSP00000303992.4:p.Met41Val
ENST00000432444.1:c.*151A>G	ENSP00000395617.1:n.*151A>G
NM_024334.2:c.121A>G , LRG_435t1:c.121A>G	NP_077310.1:p.Met41Val
XM_011534109.1:c.16A>G	XP_011532411.1:p.Met6Val
XM_017007176.2:c.16A>G	XP_016862665.1:p.Met6Val
NM_024334.3:c.121A>G MANE Select	NP_077310.1:p.Met41Val