Canonical Allele Identifier: CA432550987

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 518621
• ClinVar RCV Id: RCV001729661 ; RCV001729662
• dbSNP Id: rs150334659
• gnomAD v3: 3-14129444-C-G
• gnomAD v4: 3-14129444-C-G
• MyVariant Identifiers: chr3:g.14170944C>G (hg19) ; chr3:g.14129444C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14129444C>G , CM000665.2:g.14129444C>G	GRCh38
NC_000003.11:g.14170944C>G , CM000665.1:g.14170944C>G	GRCh37
NC_000003.10:g.14145945C>G	NCBI36
NG_008975.1:g.9505C>G , LRG_435:g.9505C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000432444.2:c.*75C>G	ENSP00000395617.1:n.*75C>G
ENST00000306077.5:c.45C>G MANE Select	ENSP00000303992.5:p.Val15=
ENST00000306077.4:c.45C>G	ENSP00000303992.4:p.Val15=
ENST00000432444.1:c.*75C>G	ENSP00000395617.1:n.*75C>G
NM_024334.2:c.45C>G , LRG_435t1:c.45C>G	NP_077310.1:p.Val15=
XM_011534109.1:c.-61C>G	XP_011532411.1:n.-61C>G
XM_017007176.2:c.-61C>G	XP_016862665.1:n.-61C>G
NM_024334.3:c.45C>G MANE Select	NP_077310.1:p.Val15=