Canonical Allele Identifier: CA69728924
Gene: TMEM43 HGNC NCBI

Linked Data

dbSNP Id: rs539638502
gnomAD v2: 3-14172229-G-A
gnomAD v3: 3-14130729-G-A
gnomAD v4: 3-14130729-G-A
MyVariant Identifiers: chr3:g.14172229G>A (hg19) chr3:g.14130729G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14130729G>A , CM000665.2:g.14130729G>A GRCh38
NC_000003.11:g.14172229G>A , CM000665.1:g.14172229G>A GRCh37
NC_000003.10:g.14147230G>A NCBI36
NG_008975.1:g.10790G>A , LRG_435:g.10790G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*193-93G>A ENSP00000395617.1:n.*193-93G>A
ENST00000306077.5:c.163-93G>A MANE Select ENSP00000303992.5:n.163-93G>A
ENST00000306077.4:c.163-93G>A ENSP00000303992.4:n.163-93G>A
ENST00000432444.1:c.*193-93G>A ENSP00000395617.1:n.*193-93G>A
NM_024334.2:c.163-93G>A , LRG_435t1:c.163-93G>A NP_077310.1:n.163-93G>A
XM_011534109.1:c.58-93G>A XP_011532411.1:n.58-93G>A
XM_017007176.2:c.58-93G>A XP_016862665.1:n.58-93G>A
NM_024334.3:c.163-93G>A MANE Select NP_077310.1:n.163-93G>A
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