Canonical Allele Identifier: CA351534692
Gene: TMEM43 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.14172429C>A (hg19) chr3:g.14130929C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14130929C>A , CM000665.2:g.14130929C>A GRCh38
NC_000003.11:g.14172429C>A , CM000665.1:g.14172429C>A GRCh37
NC_000003.10:g.14147430C>A NCBI36
NG_008975.1:g.10990C>A , LRG_435:g.10990C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.*300C>A ENSP00000395617.1:n.*300C>A
ENST00000306077.5:c.270C>A MANE Select ENSP00000303992.5:p.His90Gln
ENST00000306077.4:c.270C>A ENSP00000303992.4:p.His90Gln
ENST00000432444.1:c.*300C>A ENSP00000395617.1:n.*300C>A
NM_024334.2:c.270C>A , LRG_435t1:c.270C>A NP_077310.1:p.His90Gln
XM_011534109.1:c.165C>A XP_011532411.1:p.His55Gln
XM_017007176.2:c.165C>A XP_016862665.1:p.His55Gln
NM_024334.3:c.270C>A MANE Select NP_077310.1:p.His90Gln
Search 100 bp 5'
Search 100 bp 3'