Canonical Allele Identifier: CA351533967

Gene: TMEM43

Linked Data

• gnomAD v4: 3-14125198-C-T
• MyVariant Identifiers: chr3:g.14166698C>T (hg19) ; chr3:g.14125198C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14125198C>T , CM000665.2:g.14125198C>T	GRCh38
NC_000003.11:g.14166698C>T , CM000665.1:g.14166698C>T	GRCh37
NC_000003.10:g.14141699C>T	NCBI36
NG_008975.1:g.5259C>T , LRG_435:g.5259C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000432444.2:c.5C>T	ENSP00000395617.1:p.Ala2Val
ENST00000306077.5:c.5C>T MANE Select	ENSP00000303992.5:p.Ala2Val
ENST00000306077.4:c.5C>T	ENSP00000303992.4:p.Ala2Val
ENST00000432444.1:c.5C>T	ENSP00000395617.1:p.Ala2Val
NM_024334.2:c.5C>T , LRG_435t1:c.5C>T	NP_077310.1:p.Ala2Val
XM_017007176.2:c.-332C>T	XP_016862665.1:n.-332C>T
NM_024334.3:c.5C>T MANE Select	NP_077310.1:p.Ala2Val