Canonical Allele Identifier: CA2608695595
Gene: MTPAP HGNC NCBI

Linked Data

gnomAD v4: 10-30313428-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313428G>A , CM000672.2:g.30313428G>A GRCh38
NC_000010.10:g.30602357G>A , CM000672.1:g.30602357G>A GRCh37
NC_000010.9:g.30642363G>A NCBI36
NG_028096.1:g.40911C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*181C>T MANE Select ENSP00000263063.3:n.*181C>T
ENST00000263063.8:c.*181C>T ENSP00000263063.3:n.*181C>T
ENST00000488290.5:n.3685C>T
NM_018109.3:c.*181C>T NP_060579.3:n.*181C>T
NM_018109.4:c.*181C>T MANE Select NP_060579.3:n.*181C>T
Search 100 bp 5'
Search 100 bp 3'