Canonical Allele Identifier: CA2608695551
Gene: MTPAP HGNC NCBI

Linked Data

gnomAD v4: 10-30313387-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313387A>G , CM000672.2:g.30313387A>G GRCh38
NC_000010.10:g.30602316A>G , CM000672.1:g.30602316A>G GRCh37
NC_000010.9:g.30642322A>G NCBI36
NG_028096.1:g.40952T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*222T>C MANE Select ENSP00000263063.3:n.*222T>C
ENST00000263063.8:c.*222T>C ENSP00000263063.3:n.*222T>C
ENST00000488290.5:n.3726T>C
NM_018109.3:c.*222T>C NP_060579.3:n.*222T>C
NM_018109.4:c.*222T>C MANE Select NP_060579.3:n.*222T>C
Search 100 bp 5'
Search 100 bp 3'