Canonical Allele Identifier: CA926395140
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1840622287
gnomAD v3: 10-30313460-A-C
gnomAD v4: 10-30313460-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313460A>C , CM000672.2:g.30313460A>C GRCh38
NC_000010.10:g.30602389A>C , CM000672.1:g.30602389A>C GRCh37
NC_000010.9:g.30642395A>C NCBI36
NG_028096.1:g.40879T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*149T>G MANE Select ENSP00000263063.3:n.*149T>G
ENST00000263063.8:c.*149T>G ENSP00000263063.3:n.*149T>G
ENST00000488290.5:n.3653T>G
NM_018109.3:c.*149T>G NP_060579.3:n.*149T>G
NM_018109.4:c.*149T>G MANE Select NP_060579.3:n.*149T>G
Search 100 bp 5'
Search 100 bp 3'