Canonical Allele Identifier: CA024757

Gene: TMEM43

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14135822C>T , CM000665.2:g.14135822C>T	GRCh38
NC_000003.11:g.14177322C>T , CM000665.1:g.14177322C>T	GRCh37
NC_000003.10:g.14152323C>T	NCBI36
NG_008975.1:g.15883C>T , LRG_435:g.15883C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024334.3:c.796C>T MANE Select	NP_077310.1:p.Arg266Trp
ENST00000306077.5:c.796C>T MANE Select	ENSP00000303992.5:p.Arg266Trp
NM_024334.2:c.796C>T , LRG_435t1:c.796C>T	NP_077310.1:p.Arg266Trp
ENST00000306077.4:c.796C>T	ENSP00000303992.4:p.Arg266Trp
ENST00000432444.2:c.*826C>T	ENSP00000395617.1:n.*826C>T
ENST00000608606.1:c.32C>T
XM_011534109.1:c.691C>T	XP_011532411.1:p.Arg231Trp
XM_017007176.2:c.691C>T	XP_016862665.1:p.Arg231Trp