Canonical Allele Identifier: CA432550995

Gene: TMEM43

Linked Data

• MyVariant Identifiers: chr3:g.14170953A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14129453A>G , CM000665.2:g.14129453A>G	GRCh38
NC_000003.11:g.14170953A>G , CM000665.1:g.14170953A>G	GRCh37
NC_000003.10:g.14145954A>G	NCBI36
NG_008975.1:g.9514A>G , LRG_435:g.9514A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000432444.2:c.*84A>G	ENSP00000395617.1:n.*84A>G
ENST00000306077.5:c.54A>G MANE Select	ENSP00000303992.5:p.Lys18=
ENST00000306077.4:c.54A>G	ENSP00000303992.4:p.Lys18=
ENST00000432444.1:c.*84A>G	ENSP00000395617.1:n.*84A>G
NM_024334.2:c.54A>G , LRG_435t1:c.54A>G	NP_077310.1:p.Lys18=
XM_011534109.1:c.-52A>G	XP_011532411.1:n.-52A>G
XM_017007176.2:c.-52A>G	XP_016862665.1:n.-52A>G
NM_024334.3:c.54A>G MANE Select	NP_077310.1:p.Lys18=