Canonical Allele Identifier: CA351534314

Gene: TMEM43

Linked Data

• gnomAD v4: 3-14129490-G-C
• MyVariant Identifiers: chr3:g.14170990G>C (hg19) ; chr3:g.14129490G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14129490G>C , CM000665.2:g.14129490G>C	GRCh38
NC_000003.11:g.14170990G>C , CM000665.1:g.14170990G>C	GRCh37
NC_000003.10:g.14145991G>C	NCBI36
NG_008975.1:g.9551G>C , LRG_435:g.9551G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000432444.2:c.*121G>C	ENSP00000395617.1:n.*121G>C
ENST00000306077.5:c.91G>C MANE Select	ENSP00000303992.5:p.Glu31Gln
ENST00000306077.4:c.91G>C	ENSP00000303992.4:p.Glu31Gln
ENST00000432444.1:c.*121G>C	ENSP00000395617.1:n.*121G>C
NM_024334.2:c.91G>C , LRG_435t1:c.91G>C	NP_077310.1:p.Glu31Gln
XM_011534109.1:c.-15G>C	XP_011532411.1:n.-15G>C
XM_017007176.2:c.-15G>C	XP_016862665.1:n.-15G>C
NM_024334.3:c.91G>C MANE Select	NP_077310.1:p.Glu31Gln