Canonical Allele Identifier: CA468797992
Gene: MTPAP HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.30602589T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313660T>A , CM000672.2:g.30313660T>A GRCh38
NC_000010.10:g.30602589T>A , CM000672.1:g.30602589T>A GRCh37
NC_000010.9:g.30642595T>A NCBI36
NG_028096.1:g.40679A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1698A>T MANE Select ENSP00000263063.3:p.Thr566=
ENST00000263063.8:c.1698A>T ENSP00000263063.3:p.Thr566=
ENST00000488290.5:n.3453A>T
NM_018109.3:c.1698A>T NP_060579.3:p.Thr566=
NM_018109.4:c.1698A>T MANE Select NP_060579.3:p.Thr566=