Canonical Allele Identifier: CA432551083
Gene: TMEM43 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.14172330A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14130830A>C , CM000665.2:g.14130830A>C GRCh38
NC_000003.11:g.14172330A>C , CM000665.1:g.14172330A>C GRCh37
NC_000003.10:g.14147331A>C NCBI36
NG_008975.1:g.10891A>C , LRG_435:g.10891A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.*201A>C ENSP00000395617.1:n.*201A>C
ENST00000306077.5:c.171A>C MANE Select ENSP00000303992.5:p.Ala57=
ENST00000306077.4:c.171A>C ENSP00000303992.4:p.Ala57=
ENST00000432444.1:c.*201A>C ENSP00000395617.1:n.*201A>C
NM_024334.2:c.171A>C , LRG_435t1:c.171A>C NP_077310.1:p.Ala57=
XM_011534109.1:c.66A>C XP_011532411.1:p.Ala22=
XM_017007176.2:c.66A>C XP_016862665.1:p.Ala22=
NM_024334.3:c.171A>C MANE Select NP_077310.1:p.Ala57=
Search 100 bp 5'
Search 100 bp 3'