Canonical Allele Identifier: CA351536288

Gene: TMEM43

Linked Data

• MyVariant Identifiers: chr3:g.14180776A>G (hg19) ; chr3:g.14139276A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14139276A>G , CM000665.2:g.14139276A>G	GRCh38
NC_000003.11:g.14180776A>G , CM000665.1:g.14180776A>G	GRCh37
NC_000003.10:g.14155777A>G	NCBI36
NG_008975.1:g.19337A>G , LRG_435:g.19337A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*1009A>G	ENSP00000395617.1:n.*1009A>G
ENST00000306077.5:c.979A>G MANE Select	ENSP00000303992.5:p.Thr327Ala
ENST00000306077.4:c.979A>G	ENSP00000303992.4:p.Thr327Ala
ENST00000601399.3:n.306A>G
ENST00000608606.1:c.215A>G
NM_024334.2:c.979A>G , LRG_435t1:c.979A>G	NP_077310.1:p.Thr327Ala
XM_011534109.1:c.874A>G	XP_011532411.1:p.Thr292Ala
XM_017007176.2:c.874A>G	XP_016862665.1:p.Thr292Ala
NM_024334.3:c.979A>G MANE Select	NP_077310.1:p.Thr327Ala