Canonical Allele Identifier: CA351536648

Gene: TMEM43

Linked Data

• MyVariant Identifiers: chr3:g.14183253C>G (hg19) ; chr3:g.14141753C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14141753C>G , CM000665.2:g.14141753C>G	GRCh38
NC_000003.11:g.14183253C>G , CM000665.1:g.14183253C>G	GRCh37
NC_000003.10:g.14158254C>G	NCBI36
NG_008975.1:g.21814C>G , LRG_435:g.21814C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*1191C>G	ENSP00000395617.1:n.*1191C>G
ENST00000306077.5:c.1161C>G MANE Select	ENSP00000303992.5:p.Ile387Met
ENST00000306077.4:c.1161C>G	ENSP00000303992.4:p.Ile387Met
ENST00000601399.3:n.327+2456C>G
ENST00000608606.1:c.236+2456C>G
ENST00000626721.1:n.26C>G
NM_024334.2:c.1161C>G , LRG_435t1:c.1161C>G	NP_077310.1:p.Ile387Met
XM_011534109.1:c.1056C>G	XP_011532411.1:p.Ile352Met
XM_017007176.2:c.1056C>G	XP_016862665.1:p.Ile352Met
NM_024334.3:c.1161C>G MANE Select	NP_077310.1:p.Ile387Met