Canonical Allele Identifier: CA541296102

Gene: TMEM43

Linked Data

• dbSNP Id: rs1224275690
• gnomAD v2: 3-14170896-G-C
• gnomAD v4: 3-14129396-G-C
• MyVariant Identifiers: chr3:g.14170896G>C (hg19) ; chr3:g.14129396G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14129396G>C , CM000665.2:g.14129396G>C	GRCh38
NC_000003.11:g.14170896G>C , CM000665.1:g.14170896G>C	GRCh37
NC_000003.10:g.14145897G>C	NCBI36
NG_008975.1:g.9457G>C , LRG_435:g.9457G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*43-16G>C	ENSP00000395617.1:n.*43-16G>C
ENST00000306077.5:c.13-16G>C MANE Select	ENSP00000303992.5:n.13-16G>C
ENST00000306077.4:c.13-16G>C	ENSP00000303992.4:n.13-16G>C
ENST00000432444.1:c.*43-16G>C	ENSP00000395617.1:n.*43-16G>C
NM_024334.2:c.13-16G>C , LRG_435t1:c.13-16G>C	NP_077310.1:n.13-16G>C
XM_011534109.1:c.-93-16G>C	XP_011532411.1:n.-93-16G>C
XM_017007176.2:c.-93-16G>C	XP_016862665.1:n.-93-16G>C
NM_024334.3:c.13-16G>C MANE Select	NP_077310.1:n.13-16G>C