Canonical Allele Identifier: CA2664568730

Gene: TMEM43

Linked Data

• gnomAD v4: 3-14130742-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14130742T>C , CM000665.2:g.14130742T>C	GRCh38
NC_000003.11:g.14172242T>C , CM000665.1:g.14172242T>C	GRCh37
NC_000003.10:g.14147243T>C	NCBI36
NG_008975.1:g.10803T>C , LRG_435:g.10803T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*193-80T>C	ENSP00000395617.1:n.*193-80T>C
ENST00000306077.5:c.163-80T>C MANE Select	ENSP00000303992.5:n.163-80T>C
ENST00000306077.4:c.163-80T>C	ENSP00000303992.4:n.163-80T>C
ENST00000432444.1:c.*193-80T>C	ENSP00000395617.1:n.*193-80T>C
NM_024334.2:c.163-80T>C , LRG_435t1:c.163-80T>C	NP_077310.1:n.163-80T>C
XM_011534109.1:c.58-80T>C	XP_011532411.1:n.58-80T>C
XM_017007176.2:c.58-80T>C	XP_016862665.1:n.58-80T>C
NM_024334.3:c.163-80T>C MANE Select	NP_077310.1:n.163-80T>C