Canonical Allele Identifier: CA432550635
Gene: TMEM43 HGNC NCBI

Linked Data

gnomAD v4: 3-14125199-C-G
MyVariant Identifiers: chr3:g.14166699C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14125199C>G , CM000665.2:g.14125199C>G GRCh38
NC_000003.11:g.14166699C>G , CM000665.1:g.14166699C>G GRCh37
NC_000003.10:g.14141700C>G NCBI36
NG_008975.1:g.5260C>G , LRG_435:g.5260C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.6C>G ENSP00000395617.1:p.Ala2=
ENST00000306077.5:c.6C>G MANE Select ENSP00000303992.5:p.Ala2=
ENST00000306077.4:c.6C>G ENSP00000303992.4:p.Ala2=
ENST00000432444.1:c.6C>G ENSP00000395617.1:p.Ala2=
NM_024334.2:c.6C>G , LRG_435t1:c.6C>G NP_077310.1:p.Ala2=
XM_017007176.2:c.-331C>G XP_016862665.1:n.-331C>G
NM_024334.3:c.6C>G MANE Select NP_077310.1:p.Ala2=
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