Canonical Allele Identifier: CA432552604

Gene: TMEM43

Linked Data

• gnomAD v4: 3-14139242-C-T
• MyVariant Identifiers: chr3:g.14180742C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14139242C>T , CM000665.2:g.14139242C>T	GRCh38
NC_000003.11:g.14180742C>T , CM000665.1:g.14180742C>T	GRCh37
NC_000003.10:g.14155743C>T	NCBI36
NG_008975.1:g.19303C>T , LRG_435:g.19303C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*975C>T	ENSP00000395617.1:n.*975C>T
ENST00000306077.5:c.945C>T MANE Select	ENSP00000303992.5:p.Gly315=
ENST00000306077.4:c.945C>T	ENSP00000303992.4:p.Gly315=
ENST00000601399.3:n.272C>T
ENST00000608606.1:c.181C>T
NM_024334.2:c.945C>T , LRG_435t1:c.945C>T	NP_077310.1:p.Gly315=
XM_011534109.1:c.840C>T	XP_011532411.1:p.Gly280=
XM_017007176.2:c.840C>T	XP_016862665.1:p.Gly280=
NM_024334.3:c.945C>T MANE Select	NP_077310.1:p.Gly315=