Canonical Allele Identifier: CA351534687

Gene: TMEM43

Linked Data

• dbSNP Id: rs1437438778
• gnomAD v2: 3-14172427-C-G
• gnomAD v3: 3-14130927-C-G
• gnomAD v4: 3-14130927-C-G
• MyVariant Identifiers: chr3:g.14172427C>G (hg19) ; chr3:g.14130927C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14130927C>G , CM000665.2:g.14130927C>G	GRCh38
NC_000003.11:g.14172427C>G , CM000665.1:g.14172427C>G	GRCh37
NC_000003.10:g.14147428C>G	NCBI36
NG_008975.1:g.10988C>G , LRG_435:g.10988C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000432444.2:c.*298C>G	ENSP00000395617.1:n.*298C>G
ENST00000306077.5:c.268C>G MANE Select	ENSP00000303992.5:p.His90Asp
ENST00000306077.4:c.268C>G	ENSP00000303992.4:p.His90Asp
ENST00000432444.1:c.*298C>G	ENSP00000395617.1:n.*298C>G
NM_024334.2:c.268C>G , LRG_435t1:c.268C>G	NP_077310.1:p.His90Asp
XM_011534109.1:c.163C>G	XP_011532411.1:p.His55Asp
XM_017007176.2:c.163C>G	XP_016862665.1:p.His55Asp
NM_024334.3:c.268C>G MANE Select	NP_077310.1:p.His90Asp