Canonical Allele Identifier: CA351534386

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 1383831
• ClinVar RCV Id: RCV001924685
• dbSNP Id: rs2124985701
• MyVariant Identifiers: chr3:g.14171023G>T (hg19) ; chr3:g.14129523G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14129523G>T , CM000665.2:g.14129523G>T	GRCh38
NC_000003.11:g.14171023G>T , CM000665.1:g.14171023G>T	GRCh37
NC_000003.10:g.14146024G>T	NCBI36
NG_008975.1:g.9584G>T , LRG_435:g.9584G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*154G>T	ENSP00000395617.1:n.*154G>T
ENST00000306077.5:c.124G>T MANE Select	ENSP00000303992.5:p.Ala42Ser
ENST00000306077.4:c.124G>T	ENSP00000303992.4:p.Ala42Ser
ENST00000432444.1:c.*154G>T	ENSP00000395617.1:n.*154G>T
NM_024334.2:c.124G>T , LRG_435t1:c.124G>T	NP_077310.1:p.Ala42Ser
XM_011534109.1:c.19G>T	XP_011532411.1:p.Ala7Ser
XM_017007176.2:c.19G>T	XP_016862665.1:p.Ala7Ser
NM_024334.3:c.124G>T MANE Select	NP_077310.1:p.Ala42Ser