Canonical Allele Identifier: CA432551070

Gene: TMEM43

Linked Data

• dbSNP Id: rs746126153
• gnomAD v2: 3-14171061-G-A
• gnomAD v4: 3-14129561-G-A
• MyVariant Identifiers: chr3:g.14171061G>A (hg19) ; chr3:g.14129561G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14129561G>A , CM000665.2:g.14129561G>A	GRCh38
NC_000003.11:g.14171061G>A , CM000665.1:g.14171061G>A	GRCh37
NC_000003.10:g.14146062G>A	NCBI36
NG_008975.1:g.9622G>A , LRG_435:g.9622G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*192G>A	ENSP00000395617.1:n.*192G>A
ENST00000306077.5:c.162G>A MANE Select	ENSP00000303992.5:p.Glu54=
ENST00000306077.4:c.162G>A	ENSP00000303992.4:p.Glu54=
ENST00000432444.1:c.*192G>A	ENSP00000395617.1:n.*192G>A
NM_024334.2:c.162G>A , LRG_435t1:c.162G>A	NP_077310.1:p.Glu54=
XM_011534109.1:c.57G>A	XP_011532411.1:p.Glu19=
XM_017007176.2:c.57G>A	XP_016862665.1:p.Glu19=
NM_024334.3:c.162G>A MANE Select	NP_077310.1:p.Glu54=