Canonical Allele Identifier: CA16604379
Gene: TMEM43 HGNC NCBI

Linked Data

ClinVar Variation Id: 393016
ClinVar RCV Id: RCV000423460 RCV000756787 RCV001440020
dbSNP Id: rs1021721320
gnomAD v2: 3-14170995-C-T
gnomAD v3: 3-14129495-C-T
gnomAD v4: 3-14129495-C-T
MyVariant Identifiers: chr3:g.14170995C>T (hg19) chr3:g.14129495C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129495C>T , CM000665.2:g.14129495C>T GRCh38
NC_000003.11:g.14170995C>T , CM000665.1:g.14170995C>T GRCh37
NC_000003.10:g.14145996C>T NCBI36
NG_008975.1:g.9556C>T , LRG_435:g.9556C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.*126C>T ENSP00000395617.1:n.*126C>T
ENST00000306077.5:c.96C>T MANE Select ENSP00000303992.5:p.Thr32=
ENST00000306077.4:c.96C>T ENSP00000303992.4:p.Thr32=
ENST00000432444.1:c.*126C>T ENSP00000395617.1:n.*126C>T
NM_024334.2:c.96C>T , LRG_435t1:c.96C>T NP_077310.1:p.Thr32=
XM_011534109.1:c.-10C>T XP_011532411.1:n.-10C>T
XM_017007176.2:c.-10C>T XP_016862665.1:n.-10C>T
NM_024334.3:c.96C>T MANE Select NP_077310.1:p.Thr32=
Search 100 bp 5'
Search 100 bp 3'