Canonical Allele Identifier: CA376433718
Gene: MTPAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313620T>C , CM000672.2:g.30313620T>C GRCh38
NC_000010.10:g.30602549T>C , CM000672.1:g.30602549T>C GRCh37
NC_000010.9:g.30642555T>C NCBI36
NG_028096.1:g.40719A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1738A>G MANE Select ENSP00000263063.3:p.Thr580Ala
ENST00000263063.8:c.1738A>G ENSP00000263063.3:p.Thr580Ala
ENST00000488290.5:n.3493A>G
NM_018109.3:c.1738A>G NP_060579.3:p.Thr580Ala
NM_018109.4:c.1738A>G MANE Select NP_060579.3:p.Thr580Ala