Canonical Allele Identifier: CA351534427

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 2637062
• ClinVar RCV Id: RCV003394398
• MyVariant Identifiers: chr3:g.14171042A>G (hg19) ; chr3:g.14129542A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14129542A>G , CM000665.2:g.14129542A>G	GRCh38
NC_000003.11:g.14171042A>G , CM000665.1:g.14171042A>G	GRCh37
NC_000003.10:g.14146043A>G	NCBI36
NG_008975.1:g.9603A>G , LRG_435:g.9603A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*173A>G	ENSP00000395617.1:n.*173A>G
ENST00000306077.5:c.143A>G MANE Select	ENSP00000303992.5:p.Tyr48Cys
ENST00000306077.4:c.143A>G	ENSP00000303992.4:p.Tyr48Cys
ENST00000432444.1:c.*173A>G	ENSP00000395617.1:n.*173A>G
NM_024334.2:c.143A>G , LRG_435t1:c.143A>G	NP_077310.1:p.Tyr48Cys
XM_011534109.1:c.38A>G	XP_011532411.1:p.Tyr13Cys
XM_017007176.2:c.38A>G	XP_016862665.1:p.Tyr13Cys
NM_024334.3:c.143A>G MANE Select	NP_077310.1:p.Tyr48Cys