Canonical Allele Identifier: CA376434233
Gene: MTPAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313743T>A , CM000672.2:g.30313743T>A GRCh38
NC_000010.10:g.30602672T>A , CM000672.1:g.30602672T>A GRCh37
NC_000010.9:g.30642678T>A NCBI36
NG_028096.1:g.40596A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263063.9:c.1615A>T MANE Select ENSP00000263063.3:p.Lys539Ter
ENST00000263063.8:c.1615A>T ENSP00000263063.3:p.Lys539Ter
ENST00000488290.5:n.3370A>T
NM_018109.3:c.1615A>T NP_060579.3:p.Lys539Ter
NM_018109.4:c.1615A>T MANE Select NP_060579.3:p.Lys539Ter