Canonical Allele Identifier: CA69738050

Gene: TMEM43

Linked Data

• dbSNP Id: rs549474239
• gnomAD v3: 3-14141446-G-A
• gnomAD v4: 3-14141446-G-A
• MyVariant Identifiers: chr3:g.14182946G>A (hg19) ; chr3:g.14141446G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14141446G>A , CM000665.2:g.14141446G>A	GRCh38
NC_000003.11:g.14182946G>A , CM000665.1:g.14182946G>A	GRCh37
NC_000003.10:g.14157947G>A	NCBI36
NG_008975.1:g.21507G>A , LRG_435:g.21507G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000432444.2:c.*1031-147G>A	ENSP00000395617.1:n.*1031-147G>A
ENST00000306077.5:c.1001-147G>A MANE Select	ENSP00000303992.5:n.1001-147G>A
ENST00000306077.4:c.1001-147G>A	ENSP00000303992.4:n.1001-147G>A
ENST00000601399.3:n.327+2149G>A
ENST00000608606.1:c.236+2149G>A
NM_024334.2:c.1001-147G>A , LRG_435t1:c.1001-147G>A	NP_077310.1:n.1001-147G>A
XM_011534109.1:c.896-147G>A	XP_011532411.1:n.896-147G>A
XM_017007176.2:c.896-147G>A	XP_016862665.1:n.896-147G>A
NM_024334.3:c.1001-147G>A MANE Select	NP_077310.1:n.1001-147G>A