Canonical Allele Identifier: CA2664568729
Gene: TMEM43 HGNC NCBI

Linked Data

gnomAD v4: 3-14130741-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14130741C>T , CM000665.2:g.14130741C>T GRCh38
NC_000003.11:g.14172241C>T , CM000665.1:g.14172241C>T GRCh37
NC_000003.10:g.14147242C>T NCBI36
NG_008975.1:g.10802C>T , LRG_435:g.10802C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.*193-81C>T ENSP00000395617.1:n.*193-81C>T
ENST00000306077.5:c.163-81C>T MANE Select ENSP00000303992.5:n.163-81C>T
ENST00000306077.4:c.163-81C>T ENSP00000303992.4:n.163-81C>T
ENST00000432444.1:c.*193-81C>T ENSP00000395617.1:n.*193-81C>T
NM_024334.2:c.163-81C>T , LRG_435t1:c.163-81C>T NP_077310.1:n.163-81C>T
XM_011534109.1:c.58-81C>T XP_011532411.1:n.58-81C>T
XM_017007176.2:c.58-81C>T XP_016862665.1:n.58-81C>T
NM_024334.3:c.163-81C>T MANE Select NP_077310.1:n.163-81C>T
Search 100 bp 5'
Search 100 bp 3'