Canonical Allele Identifier: CA376434680
Gene: MTPAP HGNC NCBI

Linked Data

ClinVar Variation Id: 1971133
ClinVar RCV Id: RCV002735795
MyVariant Identifiers: chr10:g.30602809C>A (hg19) chr10:g.30313880C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313880C>A , CM000672.2:g.30313880C>A GRCh38
NC_000010.10:g.30602809C>A , CM000672.1:g.30602809C>A GRCh37
NC_000010.9:g.30642815C>A NCBI36
NG_028096.1:g.40459G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1478G>T MANE Select ENSP00000263063.3:p.Ser493Ile
ENST00000263063.8:c.1478G>T ENSP00000263063.3:p.Ser493Ile
ENST00000488290.5:n.3233G>T
NM_018109.3:c.1478G>T NP_060579.3:p.Ser493Ile
NM_018109.4:c.1478G>T MANE Select NP_060579.3:p.Ser493Ile
Search 100 bp 5'
Search 100 bp 3'