Canonical Allele Identifier: CA351533957
Gene: TMEM43 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.14166695T>C (hg19) chr3:g.14125195T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14125195T>C , CM000665.2:g.14125195T>C GRCh38
NC_000003.11:g.14166695T>C , CM000665.1:g.14166695T>C GRCh37
NC_000003.10:g.14141696T>C NCBI36
NG_008975.1:g.5256T>C , LRG_435:g.5256T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.2T>C ENSP00000395617.1:p.Met1Thr
ENST00000306077.5:c.2T>C MANE Select ENSP00000303992.5:p.Met1Thr
ENST00000306077.4:c.2T>C ENSP00000303992.4:p.Met1Thr
ENST00000432444.1:c.2T>C ENSP00000395617.1:p.Met1Thr
NM_024334.2:c.2T>C , LRG_435t1:c.2T>C NP_077310.1:p.Met1Thr
XM_017007176.2:c.-335T>C XP_016862665.1:n.-335T>C
NM_024334.3:c.2T>C MANE Select NP_077310.1:p.Met1Thr
Search 100 bp 5'
Search 100 bp 3'