Canonical Allele Identifier: CA2787135252
Gene: MTPAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313436A>G , CM000672.2:g.30313436A>G GRCh38
NC_000010.10:g.30602365A>G , CM000672.1:g.30602365A>G GRCh37
NC_000010.9:g.30642371A>G NCBI36
NG_028096.1:g.40903T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*173T>C MANE Select ENSP00000263063.3:n.*173T>C
ENST00000263063.8:c.*173T>C ENSP00000263063.3:n.*173T>C
ENST00000488290.5:n.3677T>C
NM_018109.3:c.*173T>C NP_060579.3:n.*173T>C
NM_018109.4:c.*173T>C MANE Select NP_060579.3:n.*173T>C