Canonical Allele Identifier: CA351536164

Gene: TMEM43

Linked Data

• MyVariant Identifiers: chr3:g.14180719A>T (hg19) ; chr3:g.14139219A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14139219A>T , CM000665.2:g.14139219A>T	GRCh38
NC_000003.11:g.14180719A>T , CM000665.1:g.14180719A>T	GRCh37
NC_000003.10:g.14155720A>T	NCBI36
NG_008975.1:g.19280A>T , LRG_435:g.19280A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*952A>T	ENSP00000395617.1:n.*952A>T
ENST00000306077.5:c.922A>T MANE Select	ENSP00000303992.5:p.Thr308Ser
ENST00000306077.4:c.922A>T	ENSP00000303992.4:p.Thr308Ser
ENST00000601399.3:n.249A>T
ENST00000608606.1:c.158A>T
NM_024334.2:c.922A>T , LRG_435t1:c.922A>T	NP_077310.1:p.Thr308Ser
XM_011534109.1:c.817A>T	XP_011532411.1:p.Thr273Ser
XM_017007176.2:c.817A>T	XP_016862665.1:p.Thr273Ser
NM_024334.3:c.922A>T MANE Select	NP_077310.1:p.Thr308Ser