Canonical Allele Identifier: CA5458899
Gene: MTPAP HGNC NCBI

Linked Data

ClinVar Variation Id: 2274801
ClinVar RCV Id: RCV002817509
dbSNP Id: rs148152142
ExAC: 10:30602555 T / C
gnomAD v2: 10-30602555-T-C
gnomAD v3: 10-30313626-T-C
gnomAD v4: 10-30313626-T-C
MyVariant Identifiers: chr10:g.30602555T>C (hg19) chr10:g.30313626T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313626T>C , CM000672.2:g.30313626T>C GRCh38
NC_000010.10:g.30602555T>C , CM000672.1:g.30602555T>C GRCh37
NC_000010.9:g.30642561T>C NCBI36
NG_028096.1:g.40713A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1732A>G MANE Select ENSP00000263063.3:p.Ile578Val
ENST00000263063.8:c.1732A>G ENSP00000263063.3:p.Ile578Val
ENST00000488290.5:n.3487A>G
NM_018109.3:c.1732A>G NP_060579.3:p.Ile578Val
NM_018109.4:c.1732A>G MANE Select NP_060579.3:p.Ile578Val
Search 100 bp 5'
Search 100 bp 3'