Canonical Allele Identifier: CA2608695555
Gene: MTPAP HGNC NCBI

Linked Data

gnomAD v4: 10-30313391-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313391C>T , CM000672.2:g.30313391C>T GRCh38
NC_000010.10:g.30602320C>T , CM000672.1:g.30602320C>T GRCh37
NC_000010.9:g.30642326C>T NCBI36
NG_028096.1:g.40948G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*218G>A MANE Select ENSP00000263063.3:n.*218G>A
ENST00000263063.8:c.*218G>A ENSP00000263063.3:n.*218G>A
ENST00000488290.5:n.3722G>A
NM_018109.3:c.*218G>A NP_060579.3:n.*218G>A
NM_018109.4:c.*218G>A MANE Select NP_060579.3:n.*218G>A
Search 100 bp 5'
Search 100 bp 3'