Canonical Allele Identifier: CA2608695559
Gene: MTPAP HGNC NCBI

Linked Data

gnomAD v4: 10-30313393-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313393C>T , CM000672.2:g.30313393C>T GRCh38
NC_000010.10:g.30602322C>T , CM000672.1:g.30602322C>T GRCh37
NC_000010.9:g.30642328C>T NCBI36
NG_028096.1:g.40946G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*216G>A MANE Select ENSP00000263063.3:n.*216G>A
ENST00000263063.8:c.*216G>A ENSP00000263063.3:n.*216G>A
ENST00000488290.5:n.3720G>A
NM_018109.3:c.*216G>A NP_060579.3:n.*216G>A
NM_018109.4:c.*216G>A MANE Select NP_060579.3:n.*216G>A
Search 100 bp 5'
Search 100 bp 3'