Canonical Allele Identifier: CA432551079
Gene: TMEM43 HGNC NCBI

Linked Data

dbSNP Id: rs1435344075
gnomAD v4: 3-14130824-C-G
MyVariant Identifiers: chr3:g.14172324C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14130824C>G , CM000665.2:g.14130824C>G GRCh38
NC_000003.11:g.14172324C>G , CM000665.1:g.14172324C>G GRCh37
NC_000003.10:g.14147325C>G NCBI36
NG_008975.1:g.10885C>G , LRG_435:g.10885C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.*195C>G ENSP00000395617.1:n.*195C>G
ENST00000306077.5:c.165C>G MANE Select ENSP00000303992.5:p.Gly55=
ENST00000306077.4:c.165C>G ENSP00000303992.4:p.Gly55=
ENST00000432444.1:c.*195C>G ENSP00000395617.1:n.*195C>G
NM_024334.2:c.165C>G , LRG_435t1:c.165C>G NP_077310.1:p.Gly55=
XM_011534109.1:c.60C>G XP_011532411.1:p.Gly20=
XM_017007176.2:c.60C>G XP_016862665.1:p.Gly20=
NM_024334.3:c.165C>G MANE Select NP_077310.1:p.Gly55=
Search 100 bp 5'
Search 100 bp 3'