Canonical Allele Identifier: CA432552540
Gene: TMEM43 HGNC NCBI

Linked Data

gnomAD v4: 3-14139212-C-A
MyVariant Identifiers: chr3:g.14180712C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14139212C>A , CM000665.2:g.14139212C>A GRCh38
NC_000003.11:g.14180712C>A , CM000665.1:g.14180712C>A GRCh37
NC_000003.10:g.14155713C>A NCBI36
NG_008975.1:g.19273C>A , LRG_435:g.19273C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.*945C>A ENSP00000395617.1:n.*945C>A
ENST00000306077.5:c.915C>A MANE Select ENSP00000303992.5:p.Ser305=
ENST00000306077.4:c.915C>A ENSP00000303992.4:p.Ser305=
ENST00000601399.3:n.242C>A
ENST00000608606.1:c.151C>A
NM_024334.2:c.915C>A , LRG_435t1:c.915C>A NP_077310.1:p.Ser305=
XM_011534109.1:c.810C>A XP_011532411.1:p.Ser270=
XM_017007176.2:c.810C>A XP_016862665.1:p.Ser270=
NM_024334.3:c.915C>A MANE Select NP_077310.1:p.Ser305=
Search 100 bp 5'
Search 100 bp 3'