Canonical Allele Identifier: CA2664568030
Gene: TMEM43 HGNC NCBI

Linked Data

gnomAD v4: 3-14125100-G-C

Genomic Alleles

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

Transcript Alleles

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