Canonical Allele Identifier: CA2608695548
Gene: MTPAP HGNC NCBI

Linked Data

gnomAD v4: 10-30313380-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313380C>A , CM000672.2:g.30313380C>A GRCh38
NC_000010.10:g.30602309C>A , CM000672.1:g.30602309C>A GRCh37
NC_000010.9:g.30642315C>A NCBI36
NG_028096.1:g.40959G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*229G>T MANE Select ENSP00000263063.3:n.*229G>T
ENST00000263063.8:c.*229G>T ENSP00000263063.3:n.*229G>T
ENST00000488290.5:n.3733G>T
NM_018109.3:c.*229G>T NP_060579.3:n.*229G>T
NM_018109.4:c.*229G>T MANE Select NP_060579.3:n.*229G>T
Search 100 bp 5'
Search 100 bp 3'