Canonical Allele Identifier: CA2580926348
Gene: MTPAP HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313463C>G , CM000672.2:g.30313463C>G GRCh38
NC_000010.10:g.30602392C>G , CM000672.1:g.30602392C>G GRCh37
NC_000010.9:g.30642398C>G NCBI36
NG_028096.1:g.40876G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*146G>C MANE Select ENSP00000263063.3:n.*146G>C
ENST00000263063.8:c.*146G>C ENSP00000263063.3:n.*146G>C
ENST00000488290.5:n.3650G>C
NM_018109.3:c.*146G>C NP_060579.3:n.*146G>C
NM_018109.4:c.*146G>C MANE Select NP_060579.3:n.*146G>C
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