Canonical Allele Identifier: CA351534431

Gene: TMEM43

Linked Data

• MyVariant Identifiers: chr3:g.14171044C>A (hg19) ; chr3:g.14129544C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14129544C>A , CM000665.2:g.14129544C>A	GRCh38
NC_000003.11:g.14171044C>A , CM000665.1:g.14171044C>A	GRCh37
NC_000003.10:g.14146045C>A	NCBI36
NG_008975.1:g.9605C>A , LRG_435:g.9605C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*175C>A	ENSP00000395617.1:n.*175C>A
ENST00000306077.5:c.145C>A MANE Select	ENSP00000303992.5:p.Leu49Ile
ENST00000306077.4:c.145C>A	ENSP00000303992.4:p.Leu49Ile
ENST00000432444.1:c.*175C>A	ENSP00000395617.1:n.*175C>A
NM_024334.2:c.145C>A , LRG_435t1:c.145C>A	NP_077310.1:p.Leu49Ile
XM_011534109.1:c.40C>A	XP_011532411.1:p.Leu14Ile
XM_017007176.2:c.40C>A	XP_016862665.1:p.Leu14Ile
NM_024334.3:c.145C>A MANE Select	NP_077310.1:p.Leu49Ile