Canonical Allele Identifier: CA351536631

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 1717398
• ClinVar RCV Id: RCV002304768
• MyVariant Identifiers: chr3:g.14183245G>A (hg19) ; chr3:g.14141745G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14141745G>A , CM000665.2:g.14141745G>A	GRCh38
NC_000003.11:g.14183245G>A , CM000665.1:g.14183245G>A	GRCh37
NC_000003.10:g.14158246G>A	NCBI36
NG_008975.1:g.21806G>A , LRG_435:g.21806G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*1183G>A	ENSP00000395617.1:n.*1183G>A
ENST00000306077.5:c.1153G>A MANE Select	ENSP00000303992.5:p.Val385Met
ENST00000306077.4:c.1153G>A	ENSP00000303992.4:p.Val385Met
ENST00000601399.3:n.327+2448G>A
ENST00000608606.1:c.236+2448G>A
ENST00000626721.1:n.18G>A
NM_024334.2:c.1153G>A , LRG_435t1:c.1153G>A	NP_077310.1:p.Val385Met
XM_011534109.1:c.1048G>A	XP_011532411.1:p.Val350Met
XM_017007176.2:c.1048G>A	XP_016862665.1:p.Val350Met
NM_024334.3:c.1153G>A MANE Select	NP_077310.1:p.Val385Met