Canonical Allele Identifier: CA1045277089

Gene: TMEM43

Linked Data

• dbSNP Id: rs1695081290
• gnomAD v3: 3-14130717-C-G
• gnomAD v4: 3-14130717-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14130717C>G , CM000665.2:g.14130717C>G	GRCh38
NC_000003.11:g.14172217C>G , CM000665.1:g.14172217C>G	GRCh37
NC_000003.10:g.14147218C>G	NCBI36
NG_008975.1:g.10778C>G , LRG_435:g.10778C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*193-105C>G	ENSP00000395617.1:n.*193-105C>G
ENST00000306077.5:c.163-105C>G MANE Select	ENSP00000303992.5:n.163-105C>G
ENST00000306077.4:c.163-105C>G	ENSP00000303992.4:n.163-105C>G
ENST00000432444.1:c.*193-105C>G	ENSP00000395617.1:n.*193-105C>G
NM_024334.2:c.163-105C>G , LRG_435t1:c.163-105C>G	NP_077310.1:n.163-105C>G
XM_011534109.1:c.58-105C>G	XP_011532411.1:n.58-105C>G
XM_017007176.2:c.58-105C>G	XP_016862665.1:n.58-105C>G
NM_024334.3:c.163-105C>G MANE Select	NP_077310.1:n.163-105C>G