Canonical Allele Identifier: CA899773757

Gene: TMEM43

Linked Data

• dbSNP Id: rs1195413455
• gnomAD v3: 3-14125093-G-A
• gnomAD v4: 3-14125093-G-A
• MyVariant Identifiers: chr3:g.14166593G>A (hg19) ; chr3:g.14125093G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14125093G>A , CM000665.2:g.14125093G>A	GRCh38
NC_000003.11:g.14166593G>A , CM000665.1:g.14166593G>A	GRCh37
NC_000003.10:g.14141594G>A	NCBI36
NG_008975.1:g.5154G>A , LRG_435:g.5154G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000432444.2:c.-101G>A	ENSP00000395617.1:n.-101G>A
ENST00000306077.5:c.-101G>A MANE Select	ENSP00000303992.5:n.-101G>A
ENST00000306077.4:c.-101G>A	ENSP00000303992.4:n.-101G>A
ENST00000432444.1:c.-101G>A	ENSP00000395617.1:n.-101G>A
NM_024334.2:c.-101G>A , LRG_435t1:c.-101G>A	NP_077310.1:n.-101G>A
XM_017007176.2:c.-437G>A	XP_016862665.1:n.-437G>A
NM_024334.3:c.-101G>A MANE Select	NP_077310.1:n.-101G>A