Canonical Allele Identifier: CA432551033
Gene: TMEM43 HGNC NCBI

Linked Data

dbSNP Id: rs2124985672
MyVariant Identifiers: chr3:g.14171010T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129510T>C , CM000665.2:g.14129510T>C GRCh38
NC_000003.11:g.14171010T>C , CM000665.1:g.14171010T>C GRCh37
NC_000003.10:g.14146011T>C NCBI36
NG_008975.1:g.9571T>C , LRG_435:g.9571T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*141T>C ENSP00000395617.1:n.*141T>C
ENST00000306077.5:c.111T>C MANE Select ENSP00000303992.5:p.Phe37=
ENST00000306077.4:c.111T>C ENSP00000303992.4:p.Phe37=
ENST00000432444.1:c.*141T>C ENSP00000395617.1:n.*141T>C
NM_024334.2:c.111T>C , LRG_435t1:c.111T>C NP_077310.1:p.Phe37=
XM_011534109.1:c.6T>C XP_011532411.1:p.Phe2=
XM_017007176.2:c.6T>C XP_016862665.1:p.Phe2=
NM_024334.3:c.111T>C MANE Select NP_077310.1:p.Phe37=
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