Canonical Allele Identifier: CA1346965640
Gene: TMEM43 HGNC NCBI

Linked Data

dbSNP Id: rs1694998412
gnomAD v4: 3-14125097-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14125097C>T , CM000665.2:g.14125097C>T GRCh38
NC_000003.11:g.14166597C>T , CM000665.1:g.14166597C>T GRCh37
NC_000003.10:g.14141598C>T NCBI36
NG_008975.1:g.5158C>T , LRG_435:g.5158C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.-97C>T ENSP00000395617.1:n.-97C>T
ENST00000306077.5:c.-97C>T MANE Select ENSP00000303992.5:n.-97C>T
ENST00000306077.4:c.-97C>T ENSP00000303992.4:n.-97C>T
ENST00000432444.1:c.-97C>T ENSP00000395617.1:n.-97C>T
NM_024334.2:c.-97C>T , LRG_435t1:c.-97C>T NP_077310.1:n.-97C>T
XM_017007176.2:c.-433C>T XP_016862665.1:n.-433C>T
NM_024334.3:c.-97C>T MANE Select NP_077310.1:n.-97C>T
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