Canonical Allele Identifier: CA376434073
Gene: MTPAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313707T>G , CM000672.2:g.30313707T>G GRCh38
NC_000010.10:g.30602636T>G , CM000672.1:g.30602636T>G GRCh37
NC_000010.9:g.30642642T>G NCBI36
NG_028096.1:g.40632A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1651A>C MANE Select ENSP00000263063.3:p.Ile551Leu
ENST00000263063.8:c.1651A>C ENSP00000263063.3:p.Ile551Leu
ENST00000488290.5:n.3406A>C
NM_018109.3:c.1651A>C NP_060579.3:p.Ile551Leu
NM_018109.4:c.1651A>C MANE Select NP_060579.3:p.Ile551Leu