Canonical Allele Identifier: CA351536128

Gene: TMEM43

Linked Data

• MyVariant Identifiers: chr3:g.14180706C>A (hg19) ; chr3:g.14139206C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14139206C>A , CM000665.2:g.14139206C>A	GRCh38
NC_000003.11:g.14180706C>A , CM000665.1:g.14180706C>A	GRCh37
NC_000003.10:g.14155707C>A	NCBI36
NG_008975.1:g.19267C>A , LRG_435:g.19267C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000432444.2:c.*939C>A	ENSP00000395617.1:n.*939C>A
ENST00000306077.5:c.909C>A MANE Select	ENSP00000303992.5:p.Ser303Arg
ENST00000306077.4:c.909C>A	ENSP00000303992.4:p.Ser303Arg
ENST00000601399.3:n.236C>A
ENST00000608606.1:c.145C>A
NM_024334.2:c.909C>A , LRG_435t1:c.909C>A	NP_077310.1:p.Ser303Arg
XM_011534109.1:c.804C>A	XP_011532411.1:p.Ser268Arg
XM_017007176.2:c.804C>A	XP_016862665.1:p.Ser268Arg
NM_024334.3:c.909C>A MANE Select	NP_077310.1:p.Ser303Arg