Canonical Allele Identifier: CA432551078
Gene: TMEM43 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.14172324C>A (hg19)

Genomic Alleles

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

Transcript Alleles

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