Canonical Allele Identifier: CA899773762

Gene: TMEM43

Linked Data

• dbSNP Id: rs1441161549
• gnomAD v3: 3-14125109-A-G
• gnomAD v4: 3-14125109-A-G
• MyVariant Identifiers: chr3:g.14166609A>G (hg19) ; chr3:g.14125109A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14125109A>G , CM000665.2:g.14125109A>G	GRCh38
NC_000003.11:g.14166609A>G , CM000665.1:g.14166609A>G	GRCh37
NC_000003.10:g.14141610A>G	NCBI36
NG_008975.1:g.5170A>G , LRG_435:g.5170A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000432444.2:c.-85A>G	ENSP00000395617.1:n.-85A>G
ENST00000306077.5:c.-85A>G MANE Select	ENSP00000303992.5:n.-85A>G
ENST00000306077.4:c.-85A>G	ENSP00000303992.4:n.-85A>G
ENST00000432444.1:c.-85A>G	ENSP00000395617.1:n.-85A>G
NM_024334.2:c.-85A>G , LRG_435t1:c.-85A>G	NP_077310.1:n.-85A>G
XM_017007176.2:c.-421A>G	XP_016862665.1:n.-421A>G
NM_024334.3:c.-85A>G MANE Select	NP_077310.1:n.-85A>G