Canonical Allele Identifier: CA376433839
Gene: MTPAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313649G>A , CM000672.2:g.30313649G>A GRCh38
NC_000010.10:g.30602578G>A , CM000672.1:g.30602578G>A GRCh37
NC_000010.9:g.30642584G>A NCBI36
NG_028096.1:g.40690C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1709C>T MANE Select ENSP00000263063.3:p.Thr570Ile
ENST00000263063.8:c.1709C>T ENSP00000263063.3:p.Thr570Ile
ENST00000488290.5:n.3464C>T
NM_018109.3:c.1709C>T NP_060579.3:p.Thr570Ile
NM_018109.4:c.1709C>T MANE Select NP_060579.3:p.Thr570Ile