Canonical Allele Identifier: CA1045275935
Gene: TMEM43 HGNC NCBI

Linked Data

dbSNP Id: rs1694999076
gnomAD v3: 3-14125116-G-A
gnomAD v4: 3-14125116-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14125116G>A , CM000665.2:g.14125116G>A GRCh38
NC_000003.11:g.14166616G>A , CM000665.1:g.14166616G>A GRCh37
NC_000003.10:g.14141617G>A NCBI36
NG_008975.1:g.5177G>A , LRG_435:g.5177G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.-78G>A ENSP00000395617.1:n.-78G>A
ENST00000306077.5:c.-78G>A MANE Select ENSP00000303992.5:n.-78G>A
ENST00000306077.4:c.-78G>A ENSP00000303992.4:n.-78G>A
ENST00000432444.1:c.-78G>A ENSP00000395617.1:n.-78G>A
NM_024334.2:c.-78G>A , LRG_435t1:c.-78G>A NP_077310.1:n.-78G>A
XM_017007176.2:c.-414G>A XP_016862665.1:n.-414G>A
NM_024334.3:c.-78G>A MANE Select NP_077310.1:n.-78G>A
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