Canonical Allele Identifier: CA5458906
Gene: MTPAP HGNC NCBI

Linked Data

ClinVar Variation Id: 2684268
ClinVar RCV Id: RCV003482764
dbSNP Id: rs768437884
ExAC: 10:30602594 T / C
gnomAD v2: 10-30602594-T-C
gnomAD v4: 10-30313665-T-C
MyVariant Identifiers: chr10:g.30602594T>C (hg19) chr10:g.30313665T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313665T>C , CM000672.2:g.30313665T>C GRCh38
NC_000010.10:g.30602594T>C , CM000672.1:g.30602594T>C GRCh37
NC_000010.9:g.30642600T>C NCBI36
NG_028096.1:g.40674A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1693A>G MANE Select ENSP00000263063.3:p.Arg565Gly
ENST00000263063.8:c.1693A>G ENSP00000263063.3:p.Arg565Gly
ENST00000488290.5:n.3448A>G
NM_018109.3:c.1693A>G NP_060579.3:p.Arg565Gly
NM_018109.4:c.1693A>G MANE Select NP_060579.3:p.Arg565Gly
Search 100 bp 5'
Search 100 bp 3'