Canonical Allele Identifier: CA351536410
Gene: TMEM43 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14141627C>A , CM000665.2:g.14141627C>A GRCh38
NC_000003.11:g.14183127C>A , CM000665.1:g.14183127C>A GRCh37
NC_000003.10:g.14158128C>A NCBI36
NG_008975.1:g.21688C>A , LRG_435:g.21688C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.*1065C>A ENSP00000395617.1:n.*1065C>A
ENST00000306077.5:c.1035C>A MANE Select ENSP00000303992.5:p.Asn345Lys
ENST00000306077.4:c.1035C>A ENSP00000303992.4:p.Asn345Lys
ENST00000601399.3:n.327+2330C>A
ENST00000608606.1:c.236+2330C>A
NM_024334.2:c.1035C>A , LRG_435t1:c.1035C>A NP_077310.1:p.Asn345Lys
XM_011534109.1:c.930C>A XP_011532411.1:p.Asn310Lys
XM_017007176.2:c.930C>A XP_016862665.1:p.Asn310Lys
NM_024334.3:c.1035C>A MANE Select NP_077310.1:p.Asn345Lys