Canonical Allele Identifier: CA351534151

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 1996378
• ClinVar RCV Id: RCV002823721
• dbSNP Id: rs759720857
• gnomAD v2: 3-14170910-A-C
• gnomAD v4: 3-14129410-A-C
• MyVariant Identifiers: chr3:g.14170910A>C (hg19) ; chr3:g.14129410A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14129410A>C , CM000665.2:g.14129410A>C	GRCh38
NC_000003.11:g.14170910A>C , CM000665.1:g.14170910A>C	GRCh37
NC_000003.10:g.14145911A>C	NCBI36
NG_008975.1:g.9471A>C , LRG_435:g.9471A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*43-2A>C	ENSP00000395617.1:n.*43-2A>C
ENST00000306077.5:c.13-2A>C MANE Select	ENSP00000303992.5:n.13-2A>C
ENST00000306077.4:c.13-2A>C	ENSP00000303992.4:n.13-2A>C
ENST00000432444.1:c.*43-2A>C	ENSP00000395617.1:n.*43-2A>C
NM_024334.2:c.13-2A>C , LRG_435t1:c.13-2A>C	NP_077310.1:n.13-2A>C
XM_011534109.1:c.-93-2A>C	XP_011532411.1:n.-93-2A>C
XM_017007176.2:c.-93-2A>C	XP_016862665.1:n.-93-2A>C
NM_024334.3:c.13-2A>C MANE Select	NP_077310.1:n.13-2A>C