Canonical Allele Identifier: CA376433908
Gene: MTPAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313666G>T , CM000672.2:g.30313666G>T GRCh38
NC_000010.10:g.30602595G>T , CM000672.1:g.30602595G>T GRCh37
NC_000010.9:g.30642601G>T NCBI36
NG_028096.1:g.40673C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1692C>A MANE Select ENSP00000263063.3:p.Asn564Lys
ENST00000263063.8:c.1692C>A ENSP00000263063.3:p.Asn564Lys
ENST00000488290.5:n.3447C>A
NM_018109.3:c.1692C>A NP_060579.3:p.Asn564Lys
NM_018109.4:c.1692C>A MANE Select NP_060579.3:p.Asn564Lys