Canonical Allele Identifier: CA2608695580
Gene: MTPAP HGNC NCBI

Linked Data

gnomAD v4: 10-30313417-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313417A>T , CM000672.2:g.30313417A>T GRCh38
NC_000010.10:g.30602346A>T , CM000672.1:g.30602346A>T GRCh37
NC_000010.9:g.30642352A>T NCBI36
NG_028096.1:g.40922T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*192T>A MANE Select ENSP00000263063.3:n.*192T>A
ENST00000263063.8:c.*192T>A ENSP00000263063.3:n.*192T>A
ENST00000488290.5:n.3696T>A
NM_018109.3:c.*192T>A NP_060579.3:n.*192T>A
NM_018109.4:c.*192T>A MANE Select NP_060579.3:n.*192T>A
Search 100 bp 5'
Search 100 bp 3'