Canonical Allele Identifier: CA051979

Gene: TMEM43

Linked Data

• dbSNP Id: rs758804259
• ExAC: 3:14172297 A / G
• gnomAD v2: 3-14172297-A-G
• gnomAD v4: 3-14130797-A-G
• MyVariant Identifiers: chr3:g.14172297A>G (hg19) ; chr3:g.14130797A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14130797A>G , CM000665.2:g.14130797A>G	GRCh38
NC_000003.11:g.14172297A>G , CM000665.1:g.14172297A>G	GRCh37
NC_000003.10:g.14147298A>G	NCBI36
NG_008975.1:g.10858A>G , LRG_435:g.10858A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*193-25A>G	ENSP00000395617.1:n.*193-25A>G
ENST00000306077.5:c.163-25A>G MANE Select	ENSP00000303992.5:n.163-25A>G
ENST00000306077.4:c.163-25A>G	ENSP00000303992.4:n.163-25A>G
ENST00000432444.1:c.*193-25A>G	ENSP00000395617.1:n.*193-25A>G
NM_024334.2:c.163-25A>G , LRG_435t1:c.163-25A>G	NP_077310.1:n.163-25A>G
XM_011534109.1:c.58-25A>G	XP_011532411.1:n.58-25A>G
XM_017007176.2:c.58-25A>G	XP_016862665.1:n.58-25A>G
NM_024334.3:c.163-25A>G MANE Select	NP_077310.1:n.163-25A>G