Canonical Allele Identifier: CA2608695575
Gene: MTPAP HGNC NCBI

Linked Data

gnomAD v4: 10-30313412-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313412G>T , CM000672.2:g.30313412G>T GRCh38
NC_000010.10:g.30602341G>T , CM000672.1:g.30602341G>T GRCh37
NC_000010.9:g.30642347G>T NCBI36
NG_028096.1:g.40927C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*197C>A MANE Select ENSP00000263063.3:n.*197C>A
ENST00000263063.8:c.*197C>A ENSP00000263063.3:n.*197C>A
ENST00000488290.5:n.3701C>A
NM_018109.3:c.*197C>A NP_060579.3:n.*197C>A
NM_018109.4:c.*197C>A MANE Select NP_060579.3:n.*197C>A
Search 100 bp 5'
Search 100 bp 3'