Canonical Allele Identifier: CA432551060

Gene: TMEM43

Linked Data

• MyVariant Identifiers: chr3:g.14171046A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14129546A>T , CM000665.2:g.14129546A>T	GRCh38
NC_000003.11:g.14171046A>T , CM000665.1:g.14171046A>T	GRCh37
NC_000003.10:g.14146047A>T	NCBI36
NG_008975.1:g.9607A>T , LRG_435:g.9607A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*177A>T	ENSP00000395617.1:n.*177A>T
ENST00000306077.5:c.147A>T MANE Select	ENSP00000303992.5:p.Leu49=
ENST00000306077.4:c.147A>T	ENSP00000303992.4:p.Leu49=
ENST00000432444.1:c.*177A>T	ENSP00000395617.1:n.*177A>T
NM_024334.2:c.147A>T , LRG_435t1:c.147A>T	NP_077310.1:p.Leu49=
XM_011534109.1:c.42A>T	XP_011532411.1:p.Leu14=
XM_017007176.2:c.42A>T	XP_016862665.1:p.Leu14=
NM_024334.3:c.147A>T MANE Select	NP_077310.1:p.Leu49=