Canonical Allele Identifier: CA205301019
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs866242730
gnomAD v4: 10-30313853-G-A
COSMIC: COSM917609 COSM917610
MyVariant Identifiers: chr10:g.30602782G>A (hg19) chr10:g.30313853G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313853G>A , CM000672.2:g.30313853G>A GRCh38
NC_000010.10:g.30602782G>A , CM000672.1:g.30602782G>A GRCh37
NC_000010.9:g.30642788G>A NCBI36
NG_028096.1:g.40486C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263063.9:c.1505C>T MANE Select ENSP00000263063.3:p.Ala502Val
ENST00000263063.8:c.1505C>T ENSP00000263063.3:p.Ala502Val
ENST00000488290.5:n.3260C>T
NM_018109.3:c.1505C>T NP_060579.3:p.Ala502Val
NM_018109.4:c.1505C>T MANE Select NP_060579.3:p.Ala502Val
Search 100 bp 5'
Search 100 bp 3'