Canonical Allele Identifier: CA541296234

Gene: TMEM43

Linked Data

• dbSNP Id: rs1283365494
• gnomAD v2: 3-14172280-C-T
• gnomAD v4: 3-14130780-C-T
• MyVariant Identifiers: chr3:g.14172280C>T (hg19) ; chr3:g.14130780C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14130780C>T , CM000665.2:g.14130780C>T	GRCh38
NC_000003.11:g.14172280C>T , CM000665.1:g.14172280C>T	GRCh37
NC_000003.10:g.14147281C>T	NCBI36
NG_008975.1:g.10841C>T , LRG_435:g.10841C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*193-42C>T	ENSP00000395617.1:n.*193-42C>T
ENST00000306077.5:c.163-42C>T MANE Select	ENSP00000303992.5:n.163-42C>T
ENST00000306077.4:c.163-42C>T	ENSP00000303992.4:n.163-42C>T
ENST00000432444.1:c.*193-42C>T	ENSP00000395617.1:n.*193-42C>T
NM_024334.2:c.163-42C>T , LRG_435t1:c.163-42C>T	NP_077310.1:n.163-42C>T
XM_011534109.1:c.58-42C>T	XP_011532411.1:n.58-42C>T
XM_017007176.2:c.58-42C>T	XP_016862665.1:n.58-42C>T
NM_024334.3:c.163-42C>T MANE Select	NP_077310.1:n.163-42C>T