Canonical Allele Identifier: CA205300686
Gene: MTPAP HGNC NCBI

Linked Data

ClinVar Variation Id: 1196895
ClinVar RCV Id: RCV001560547
dbSNP Id: rs34660258
gnomAD v2: 10-30602392-C-T
gnomAD v3: 10-30313463-C-T
gnomAD v4: 10-30313463-C-T
MyVariant Identifiers: chr10:g.30602392C>T (hg19) chr10:g.30313463C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313463C>T , CM000672.2:g.30313463C>T GRCh38
NC_000010.10:g.30602392C>T , CM000672.1:g.30602392C>T GRCh37
NC_000010.9:g.30642398C>T NCBI36
NG_028096.1:g.40876G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*146G>A MANE Select ENSP00000263063.3:n.*146G>A
ENST00000263063.8:c.*146G>A ENSP00000263063.3:n.*146G>A
ENST00000488290.5:n.3650G>A
NM_018109.3:c.*146G>A NP_060579.3:n.*146G>A
NM_018109.4:c.*146G>A MANE Select NP_060579.3:n.*146G>A
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