Canonical Allele Identifier: CA205300699
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs984628588
gnomAD v4: 10-30313504-T-G
MyVariant Identifiers: chr10:g.30602433T>G (hg19) chr10:g.30313504T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313504T>G , CM000672.2:g.30313504T>G GRCh38
NC_000010.10:g.30602433T>G , CM000672.1:g.30602433T>G GRCh37
NC_000010.9:g.30642439T>G NCBI36
NG_028096.1:g.40835A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*105A>C MANE Select ENSP00000263063.3:n.*105A>C
ENST00000263063.8:c.*105A>C ENSP00000263063.3:n.*105A>C
ENST00000488290.5:n.3609A>C
NM_018109.3:c.*105A>C NP_060579.3:n.*105A>C
NM_018109.4:c.*105A>C MANE Select NP_060579.3:n.*105A>C
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