Canonical Allele Identifier: CA024803

Gene: TMEM43

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14139244G>C , CM000665.2:g.14139244G>C	GRCh38
NC_000003.11:g.14180744G>C , CM000665.1:g.14180744G>C	GRCh37
NC_000003.10:g.14155745G>C	NCBI36
NG_008975.1:g.19305G>C , LRG_435:g.19305G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024334.3:c.947G>C MANE Select	NP_077310.1:p.Trp316Ser
ENST00000306077.5:c.947G>C MANE Select	ENSP00000303992.5:p.Trp316Ser
NM_024334.2:c.947G>C , LRG_435t1:c.947G>C	NP_077310.1:p.Trp316Ser
ENST00000306077.4:c.947G>C	ENSP00000303992.4:p.Trp316Ser
ENST00000432444.2:c.*977G>C	ENSP00000395617.1:n.*977G>C
ENST00000601399.3:n.274G>C
ENST00000608606.1:c.183G>C
XM_011534109.1:c.842G>C	XP_011532411.1:p.Trp281Ser
XM_017007176.2:c.842G>C	XP_016862665.1:p.Trp281Ser