Canonical Allele Identifier: CA432551034

Gene: TMEM43

Linked Data

• MyVariant Identifiers: chr3:g.14171013G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14129513G>C , CM000665.2:g.14129513G>C	GRCh38
NC_000003.11:g.14171013G>C , CM000665.1:g.14171013G>C	GRCh37
NC_000003.10:g.14146014G>C	NCBI36
NG_008975.1:g.9574G>C , LRG_435:g.9574G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*144G>C	ENSP00000395617.1:n.*144G>C
ENST00000306077.5:c.114G>C MANE Select	ENSP00000303992.5:p.Val38=
ENST00000306077.4:c.114G>C	ENSP00000303992.4:p.Val38=
ENST00000432444.1:c.*144G>C	ENSP00000395617.1:n.*144G>C
NM_024334.2:c.114G>C , LRG_435t1:c.114G>C	NP_077310.1:p.Val38=
XM_011534109.1:c.9G>C	XP_011532411.1:p.Val3=
XM_017007176.2:c.9G>C	XP_016862665.1:p.Val3=
NM_024334.3:c.114G>C MANE Select	NP_077310.1:p.Val38=