Canonical Allele Identifier: CA2664568031
Gene: TMEM43 HGNC NCBI

Linked Data

gnomAD v4: 3-14125100-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14125100G>T , CM000665.2:g.14125100G>T GRCh38
NC_000003.11:g.14166600G>T , CM000665.1:g.14166600G>T GRCh37
NC_000003.10:g.14141601G>T NCBI36
NG_008975.1:g.5161G>T , LRG_435:g.5161G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.-94G>T ENSP00000395617.1:n.-94G>T
ENST00000306077.5:c.-94G>T MANE Select ENSP00000303992.5:n.-94G>T
ENST00000306077.4:c.-94G>T ENSP00000303992.4:n.-94G>T
ENST00000432444.1:c.-94G>T ENSP00000395617.1:n.-94G>T
NM_024334.2:c.-94G>T , LRG_435t1:c.-94G>T NP_077310.1:n.-94G>T
XM_017007176.2:c.-430G>T XP_016862665.1:n.-430G>T
NM_024334.3:c.-94G>T MANE Select NP_077310.1:n.-94G>T
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