Canonical Allele Identifier: CA351534333

Gene: TMEM43

Linked Data

• dbSNP Id: rs1376541965
• gnomAD v4: 3-14129499-G-T
• MyVariant Identifiers: chr3:g.14170999G>T (hg19) ; chr3:g.14129499G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14129499G>T , CM000665.2:g.14129499G>T	GRCh38
NC_000003.11:g.14170999G>T , CM000665.1:g.14170999G>T	GRCh37
NC_000003.10:g.14146000G>T	NCBI36
NG_008975.1:g.9560G>T , LRG_435:g.9560G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*130G>T	ENSP00000395617.1:n.*130G>T
ENST00000306077.5:c.100G>T MANE Select	ENSP00000303992.5:p.Gly34Cys
ENST00000306077.4:c.100G>T	ENSP00000303992.4:p.Gly34Cys
ENST00000432444.1:c.*130G>T	ENSP00000395617.1:n.*130G>T
NM_024334.2:c.100G>T , LRG_435t1:c.100G>T	NP_077310.1:p.Gly34Cys
XM_011534109.1:c.-6G>T	XP_011532411.1:n.-6G>T
XM_017007176.2:c.-6G>T	XP_016862665.1:n.-6G>T
NM_024334.3:c.100G>T MANE Select	NP_077310.1:p.Gly34Cys