Canonical Allele Identifier: CA5458918
Gene: MTPAP HGNC NCBI

Linked Data

ClinVar Variation Id: 447741
ClinVar RCV Id: RCV002060247
dbSNP Id: rs147174746
ExAC: 10:30602680 G / C
gnomAD v2: 10-30602680-G-C
gnomAD v3: 10-30313751-G-C
gnomAD v4: 10-30313751-G-C
MyVariant Identifiers: chr10:g.30602680G>C (hg19) chr10:g.30313751G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313751G>C , CM000672.2:g.30313751G>C GRCh38
NC_000010.10:g.30602680G>C , CM000672.1:g.30602680G>C GRCh37
NC_000010.9:g.30642686G>C NCBI36
NG_028096.1:g.40588C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000263063.9:c.1607C>G MANE Select ENSP00000263063.3:p.Pro536Arg
ENST00000263063.8:c.1607C>G ENSP00000263063.3:p.Pro536Arg
ENST00000488290.5:n.3362C>G
NM_018109.3:c.1607C>G NP_060579.3:p.Pro536Arg
NM_018109.4:c.1607C>G MANE Select NP_060579.3:p.Pro536Arg
Search 100 bp 5'
Search 100 bp 3'