Canonical Allele Identifier: CA351536649

Gene: TMEM43

Linked Data

• MyVariant Identifiers: chr3:g.14183254C>A (hg19) ; chr3:g.14141754C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14141754C>A , CM000665.2:g.14141754C>A	GRCh38
NC_000003.11:g.14183254C>A , CM000665.1:g.14183254C>A	GRCh37
NC_000003.10:g.14158255C>A	NCBI36
NG_008975.1:g.21815C>A , LRG_435:g.21815C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*1192C>A	ENSP00000395617.1:n.*1192C>A
ENST00000306077.5:c.1162C>A MANE Select	ENSP00000303992.5:p.Leu388Ile
ENST00000306077.4:c.1162C>A	ENSP00000303992.4:p.Leu388Ile
ENST00000601399.3:n.327+2457C>A
ENST00000608606.1:c.236+2457C>A
ENST00000626721.1:n.27C>A
NM_024334.2:c.1162C>A , LRG_435t1:c.1162C>A	NP_077310.1:p.Leu388Ile
XM_011534109.1:c.1057C>A	XP_011532411.1:p.Leu353Ile
XM_017007176.2:c.1057C>A	XP_016862665.1:p.Leu353Ile
NM_024334.3:c.1162C>A MANE Select	NP_077310.1:p.Leu388Ile