Canonical Allele Identifier: CA432551042

Gene: TMEM43

Linked Data

• MyVariant Identifiers: chr3:g.14171025C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14129525C>A , CM000665.2:g.14129525C>A	GRCh38
NC_000003.11:g.14171025C>A , CM000665.1:g.14171025C>A	GRCh37
NC_000003.10:g.14146026C>A	NCBI36
NG_008975.1:g.9586C>A , LRG_435:g.9586C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*156C>A	ENSP00000395617.1:n.*156C>A
ENST00000306077.5:c.126C>A MANE Select	ENSP00000303992.5:p.Ala42=
ENST00000306077.4:c.126C>A	ENSP00000303992.4:p.Ala42=
ENST00000432444.1:c.*156C>A	ENSP00000395617.1:n.*156C>A
NM_024334.2:c.126C>A , LRG_435t1:c.126C>A	NP_077310.1:p.Ala42=
XM_011534109.1:c.21C>A	XP_011532411.1:p.Ala7=
XM_017007176.2:c.21C>A	XP_016862665.1:p.Ala7=
NM_024334.3:c.126C>A MANE Select	NP_077310.1:p.Ala42=