Canonical Allele Identifier: CA351534415

Gene: TMEM43

Linked Data

• MyVariant Identifiers: chr3:g.14171038T>C (hg19) ; chr3:g.14129538T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14129538T>C , CM000665.2:g.14129538T>C	GRCh38
NC_000003.11:g.14171038T>C , CM000665.1:g.14171038T>C	GRCh37
NC_000003.10:g.14146039T>C	NCBI36
NG_008975.1:g.9599T>C , LRG_435:g.9599T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*169T>C	ENSP00000395617.1:n.*169T>C
ENST00000306077.5:c.139T>C MANE Select	ENSP00000303992.5:p.Phe47Leu
ENST00000306077.4:c.139T>C	ENSP00000303992.4:p.Phe47Leu
ENST00000432444.1:c.*169T>C	ENSP00000395617.1:n.*169T>C
NM_024334.2:c.139T>C , LRG_435t1:c.139T>C	NP_077310.1:p.Phe47Leu
XM_011534109.1:c.34T>C	XP_011532411.1:p.Phe12Leu
XM_017007176.2:c.34T>C	XP_016862665.1:p.Phe12Leu
NM_024334.3:c.139T>C MANE Select	NP_077310.1:p.Phe47Leu