Canonical Allele Identifier: CA432552994

Gene: TMEM43

Linked Data

• MyVariant Identifiers: chr3:g.14183178G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14141678G>T , CM000665.2:g.14141678G>T	GRCh38
NC_000003.11:g.14183178G>T , CM000665.1:g.14183178G>T	GRCh37
NC_000003.10:g.14158179G>T	NCBI36
NG_008975.1:g.21739G>T , LRG_435:g.21739G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000432444.2:c.*1116G>T	ENSP00000395617.1:n.*1116G>T
ENST00000306077.5:c.1086G>T MANE Select	ENSP00000303992.5:p.Leu362=
ENST00000306077.4:c.1086G>T	ENSP00000303992.4:p.Leu362=
ENST00000601399.3:n.327+2381G>T
ENST00000608606.1:c.236+2381G>T
NM_024334.2:c.1086G>T , LRG_435t1:c.1086G>T	NP_077310.1:p.Leu362=
XM_011534109.1:c.981G>T	XP_011532411.1:p.Leu327=
XM_017007176.2:c.981G>T	XP_016862665.1:p.Leu327=
NM_024334.3:c.1086G>T MANE Select	NP_077310.1:p.Leu362=