Canonical Allele Identifier: CA926395132
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1840621731
gnomAD v3: 10-30313430-C-T
gnomAD v4: 10-30313430-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313430C>T , CM000672.2:g.30313430C>T GRCh38
NC_000010.10:g.30602359C>T , CM000672.1:g.30602359C>T GRCh37
NC_000010.9:g.30642365C>T NCBI36
NG_028096.1:g.40909G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*179G>A MANE Select ENSP00000263063.3:n.*179G>A
ENST00000263063.8:c.*179G>A ENSP00000263063.3:n.*179G>A
ENST00000488290.5:n.3683G>A
NM_018109.3:c.*179G>A NP_060579.3:n.*179G>A
NM_018109.4:c.*179G>A MANE Select NP_060579.3:n.*179G>A
Search 100 bp 5'
Search 100 bp 3'