Canonical Allele Identifier: CA468798938
Gene: MTPAP HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.30602859A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313930A>T , CM000672.2:g.30313930A>T GRCh38
NC_000010.10:g.30602859A>T , CM000672.1:g.30602859A>T GRCh37
NC_000010.9:g.30642865A>T NCBI36
NG_028096.1:g.40409T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263063.9:c.1428T>A MANE Select ENSP00000263063.3:p.Ile476=
ENST00000263063.8:c.1428T>A ENSP00000263063.3:p.Ile476=
ENST00000488290.5:n.3183T>A
NM_018109.3:c.1428T>A NP_060579.3:p.Ile476=
NM_018109.4:c.1428T>A MANE Select NP_060579.3:p.Ile476=