Canonical Allele Identifier: CA432552988
Gene: TMEM43 HGNC NCBI

Linked Data

gnomAD v4: 3-14141675-G-C
MyVariant Identifiers: chr3:g.14183175G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14141675G>C , CM000665.2:g.14141675G>C GRCh38
NC_000003.11:g.14183175G>C , CM000665.1:g.14183175G>C GRCh37
NC_000003.10:g.14158176G>C NCBI36
NG_008975.1:g.21736G>C , LRG_435:g.21736G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.*1113G>C ENSP00000395617.1:n.*1113G>C
ENST00000306077.5:c.1083G>C MANE Select ENSP00000303992.5:p.Leu361=
ENST00000306077.4:c.1083G>C ENSP00000303992.4:p.Leu361=
ENST00000601399.3:n.327+2378G>C
ENST00000608606.1:c.236+2378G>C
NM_024334.2:c.1083G>C , LRG_435t1:c.1083G>C NP_077310.1:p.Leu361=
XM_011534109.1:c.978G>C XP_011532411.1:p.Leu326=
XM_017007176.2:c.978G>C XP_016862665.1:p.Leu326=
NM_024334.3:c.1083G>C MANE Select NP_077310.1:p.Leu361=
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