Canonical Allele Identifier: CA432552924
Gene: TMEM43 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.14183148C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14141648C>G , CM000665.2:g.14141648C>G GRCh38
NC_000003.11:g.14183148C>G , CM000665.1:g.14183148C>G GRCh37
NC_000003.10:g.14158149C>G NCBI36
NG_008975.1:g.21709C>G , LRG_435:g.21709C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*1086C>G ENSP00000395617.1:n.*1086C>G
ENST00000306077.5:c.1056C>G MANE Select ENSP00000303992.5:p.Ala352=
ENST00000306077.4:c.1056C>G ENSP00000303992.4:p.Ala352=
ENST00000601399.3:n.327+2351C>G
ENST00000608606.1:c.236+2351C>G
NM_024334.2:c.1056C>G , LRG_435t1:c.1056C>G NP_077310.1:p.Ala352=
XM_011534109.1:c.951C>G XP_011532411.1:p.Ala317=
XM_017007176.2:c.951C>G XP_016862665.1:p.Ala317=
NM_024334.3:c.1056C>G MANE Select NP_077310.1:p.Ala352=