Canonical Allele Identifier: CA056247
Gene: TMEM43 HGNC NCBI

Linked Data

ClinVar Variation Id: 925267
ClinVar RCV Id: RCV003600405
dbSNP Id: rs777277570
ExAC: 3:14180711 C / A
gnomAD v2: 3-14180711-C-A
gnomAD v3: 3-14139211-C-A
gnomAD v4: 3-14139211-C-A
MyVariant Identifiers: chr3:g.14180711C>A (hg19) chr3:g.14139211C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14139211C>A , CM000665.2:g.14139211C>A GRCh38
NC_000003.11:g.14180711C>A , CM000665.1:g.14180711C>A GRCh37
NC_000003.10:g.14155712C>A NCBI36
NG_008975.1:g.19272C>A , LRG_435:g.19272C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.*944C>A ENSP00000395617.1:n.*944C>A
ENST00000306077.5:c.914C>A MANE Select ENSP00000303992.5:p.Ser305Tyr
ENST00000306077.4:c.914C>A ENSP00000303992.4:p.Ser305Tyr
ENST00000601399.3:n.241C>A
ENST00000608606.1:c.150C>A
NM_024334.2:c.914C>A , LRG_435t1:c.914C>A NP_077310.1:p.Ser305Tyr
XM_011534109.1:c.809C>A XP_011532411.1:p.Ser270Tyr
XM_017007176.2:c.809C>A XP_016862665.1:p.Ser270Tyr
NM_024334.3:c.914C>A MANE Select NP_077310.1:p.Ser305Tyr
Search 100 bp 5'
Search 100 bp 3'