Canonical Allele Identifier: CA2608696036
Gene: MTPAP HGNC NCBI

Linked Data

gnomAD v4: 10-30314118-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30314118T>A , CM000672.2:g.30314118T>A GRCh38
NC_000010.10:g.30603047T>A , CM000672.1:g.30603047T>A GRCh37
NC_000010.9:g.30643053T>A NCBI36
NG_028096.1:g.40221A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1387-147A>T MANE Select ENSP00000263063.3:n.1387-147A>T
ENST00000263063.8:c.1387-147A>T ENSP00000263063.3:n.1387-147A>T
ENST00000488290.5:n.3142-147A>T
NM_018109.3:c.1387-147A>T NP_060579.3:n.1387-147A>T
NM_018109.4:c.1387-147A>T MANE Select NP_060579.3:n.1387-147A>T
Search 100 bp 5'
Search 100 bp 3'