Canonical Allele Identifier: CA113782
Gene: MTPAP HGNC NCBI

Linked Data

ClinVar Variation Id: 18391
ClinVar RCV Id: RCV000000002 RCV002513130
dbSNP Id: rs267606900
gnomAD v3: 10-30313926-T-C
gnomAD v4: 10-30313926-T-C
MyVariant Identifiers: chr10:g.30602855T>C (hg19) chr10:g.30313926T>C (hg38)
PubMed: PMID:20970105 PMID:25008111
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313926T>C , CM000672.2:g.30313926T>C GRCh38
NC_000010.10:g.30602855T>C , CM000672.1:g.30602855T>C GRCh37
NC_000010.9:g.30642861T>C NCBI36
NG_028096.1:g.40413A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1432A>G MANE Select ENSP00000263063.3:p.Asn478Asp
ENST00000263063.8:c.1432A>G ENSP00000263063.3:p.Asn478Asp
ENST00000488290.5:n.3187A>G
NM_018109.3:c.1432A>G NP_060579.3:p.Asn478Asp
NM_018109.4:c.1432A>G MANE Select NP_060579.3:p.Asn478Asp
Search 100 bp 5'
Search 100 bp 3'