Canonical Allele Identifier: CA051252

Gene: TMEM43

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14141706C>T , CM000665.2:g.14141706C>T	GRCh38
NC_000003.11:g.14183206C>T , CM000665.1:g.14183206C>T	GRCh37
NC_000003.10:g.14158207C>T	NCBI36
NG_008975.1:g.21767C>T , LRG_435:g.21767C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024334.3:c.1114C>T MANE Select	NP_077310.1:p.Arg372Ter
ENST00000306077.5:c.1114C>T MANE Select	ENSP00000303992.5:p.Arg372Ter
NM_024334.2:c.1114C>T , LRG_435t1:c.1114C>T	NP_077310.1:p.Arg372Ter
ENST00000306077.4:c.1114C>T	ENSP00000303992.4:p.Arg372Ter
ENST00000432444.2:c.*1144C>T	ENSP00000395617.1:n.*1144C>T
ENST00000601399.3:n.327+2409C>T
ENST00000608606.1:c.236+2409C>T
XM_011534109.1:c.1009C>T	XP_011532411.1:p.Arg337Ter
XM_017007176.2:c.1009C>T	XP_016862665.1:p.Arg337Ter