Canonical Allele Identifier: CA9549455

Gene: TMEM143

Linked Data

• ClinVar Variation Id: 2341428
• ClinVar RCV Id: RCV004183326
• dbSNP Id: rs145038055
• ExAC: 19:48845855 C / T
• gnomAD v2: 19-48845855-C-T
• gnomAD v3: 19-48342598-C-T
• gnomAD v4: 19-48342598-C-T
• MyVariant Identifiers: chr19:g.48845855C>T (hg19) ; chr19:g.48845855_48845856delinsTG (hg19) ; chr19:g.48342598C>T (hg38) ; chr19:g.48342598_48342599delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48342598C>T , CM000681.2:g.48342598C>T	GRCh38
NC_000019.9:g.48845855C>T , CM000681.1:g.48845855C>T	GRCh37
NC_000019.8:g.53537667C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293261.8:c.907G>A MANE Select	ENSP00000293261.2:p.Asp303Asn
ENST00000293261.7:c.907G>A	ENSP00000293261.2:p.Asp303Asn
ENST00000377431.6:c.607G>A	ENSP00000366649.1:p.Asp203Asn
ENST00000435956.7:c.802G>A	ENSP00000397038.2:p.Asp268Asn
ENST00000600816.1:n.394G>A
NM_001303538.1:c.802G>A	NP_001290467.1:p.Asp268Asn
NM_001303539.1:c.712G>A	NP_001290468.1:p.Asp238Asn
NM_001303540.1:c.607G>A	NP_001290469.1:p.Asp203Asn
NM_018273.3:c.907G>A	NP_060743.2:p.Asp303Asn
NR_130317.1:n.878G>A
NM_018273.4:c.907G>A MANE Select	NP_060743.2:p.Asp303Asn
NM_001303538.2:c.802G>A	NP_001290467.1:p.Asp268Asn
NM_001303539.2:c.712G>A	NP_001290468.1:p.Asp238Asn
NM_001303540.2:c.607G>A	NP_001290469.1:p.Asp203Asn
NR_130317.2:n.581G>A