Canonical Allele Identifier: CA351534159

Gene: TMEM43

Linked Data

• gnomAD v4: 3-14129413-A-T
• MyVariant Identifiers: chr3:g.14170913A>T (hg19) ; chr3:g.14129413A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14129413A>T , CM000665.2:g.14129413A>T	GRCh38
NC_000003.11:g.14170913A>T , CM000665.1:g.14170913A>T	GRCh37
NC_000003.10:g.14145914A>T	NCBI36
NG_008975.1:g.9474A>T , LRG_435:g.9474A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*44A>T	ENSP00000395617.1:n.*44A>T
ENST00000306077.5:c.14A>T MANE Select	ENSP00000303992.5:p.Tyr5Phe
ENST00000306077.4:c.14A>T	ENSP00000303992.4:p.Tyr5Phe
ENST00000432444.1:c.*44A>T	ENSP00000395617.1:n.*44A>T
NM_024334.2:c.14A>T , LRG_435t1:c.14A>T	NP_077310.1:p.Tyr5Phe
XM_011534109.1:c.-92A>T	XP_011532411.1:n.-92A>T
XM_017007176.2:c.-92A>T	XP_016862665.1:n.-92A>T
NM_024334.3:c.14A>T MANE Select	NP_077310.1:p.Tyr5Phe