Canonical Allele Identifier: CA052451

Gene: TMEM43

Linked Data

• dbSNP Id: rs753528238
• ExAC: 3:14172428 A / G
• gnomAD v2: 3-14172428-A-G
• gnomAD v4: 3-14130928-A-G
• MyVariant Identifiers: chr3:g.14172428A>G (hg19) ; chr3:g.14130928A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14130928A>G , CM000665.2:g.14130928A>G	GRCh38
NC_000003.11:g.14172428A>G , CM000665.1:g.14172428A>G	GRCh37
NC_000003.10:g.14147429A>G	NCBI36
NG_008975.1:g.10989A>G , LRG_435:g.10989A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*299A>G	ENSP00000395617.1:n.*299A>G
ENST00000306077.5:c.269A>G MANE Select	ENSP00000303992.5:p.His90Arg
ENST00000306077.4:c.269A>G	ENSP00000303992.4:p.His90Arg
ENST00000432444.1:c.*299A>G	ENSP00000395617.1:n.*299A>G
NM_024334.2:c.269A>G , LRG_435t1:c.269A>G	NP_077310.1:p.His90Arg
XM_011534109.1:c.164A>G	XP_011532411.1:p.His55Arg
XM_017007176.2:c.164A>G	XP_016862665.1:p.His55Arg
NM_024334.3:c.269A>G MANE Select	NP_077310.1:p.His90Arg