Canonical Allele Identifier: CA376434664
Gene: MTPAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313872G>T , CM000672.2:g.30313872G>T GRCh38
NC_000010.10:g.30602801G>T , CM000672.1:g.30602801G>T GRCh37
NC_000010.9:g.30642807G>T NCBI36
NG_028096.1:g.40467C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1486C>A MANE Select ENSP00000263063.3:p.Gln496Lys
ENST00000263063.8:c.1486C>A ENSP00000263063.3:p.Gln496Lys
ENST00000488290.5:n.3241C>A
NM_018109.3:c.1486C>A NP_060579.3:p.Gln496Lys
NM_018109.4:c.1486C>A MANE Select NP_060579.3:p.Gln496Lys