Canonical Allele Identifier: CA926395139
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1840622246
gnomAD v3: 10-30313459-C-G
gnomAD v4: 10-30313459-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313459C>G , CM000672.2:g.30313459C>G GRCh38
NC_000010.10:g.30602388C>G , CM000672.1:g.30602388C>G GRCh37
NC_000010.9:g.30642394C>G NCBI36
NG_028096.1:g.40880G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*150G>C MANE Select ENSP00000263063.3:n.*150G>C
ENST00000263063.8:c.*150G>C ENSP00000263063.3:n.*150G>C
ENST00000488290.5:n.3654G>C
NM_018109.3:c.*150G>C NP_060579.3:n.*150G>C
NM_018109.4:c.*150G>C MANE Select NP_060579.3:n.*150G>C
Search 100 bp 5'
Search 100 bp 3'