Canonical Allele Identifier: CA376433782
Gene: MTPAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313635T>C , CM000672.2:g.30313635T>C GRCh38
NC_000010.10:g.30602564T>C , CM000672.1:g.30602564T>C GRCh37
NC_000010.9:g.30642570T>C NCBI36
NG_028096.1:g.40704A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1723A>G MANE Select ENSP00000263063.3:p.Lys575Glu
ENST00000263063.8:c.1723A>G ENSP00000263063.3:p.Lys575Glu
ENST00000488290.5:n.3478A>G
NM_018109.3:c.1723A>G NP_060579.3:p.Lys575Glu
NM_018109.4:c.1723A>G MANE Select NP_060579.3:p.Lys575Glu