Canonical Allele Identifier: CA051592

Gene: TMEM43

Linked Data

• dbSNP Id: rs759720857
• ExAC: 3:14170910 A / G
• gnomAD v4: 3-14129410-A-G
• MyVariant Identifiers: chr3:g.14170910A>G (hg19) ; chr3:g.14129410A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14129410A>G , CM000665.2:g.14129410A>G	GRCh38
NC_000003.11:g.14170910A>G , CM000665.1:g.14170910A>G	GRCh37
NC_000003.10:g.14145911A>G	NCBI36
NG_008975.1:g.9471A>G , LRG_435:g.9471A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000432444.2:c.*43-2A>G	ENSP00000395617.1:n.*43-2A>G
ENST00000306077.5:c.13-2A>G MANE Select	ENSP00000303992.5:n.13-2A>G
ENST00000306077.4:c.13-2A>G	ENSP00000303992.4:n.13-2A>G
ENST00000432444.1:c.*43-2A>G	ENSP00000395617.1:n.*43-2A>G
NM_024334.2:c.13-2A>G , LRG_435t1:c.13-2A>G	NP_077310.1:n.13-2A>G
XM_011534109.1:c.-93-2A>G	XP_011532411.1:n.-93-2A>G
XM_017007176.2:c.-93-2A>G	XP_016862665.1:n.-93-2A>G
NM_024334.3:c.13-2A>G MANE Select	NP_077310.1:n.13-2A>G