Canonical Allele Identifier: CA205301030
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs942093039
gnomAD v2: 10-30602801-G-A
gnomAD v4: 10-30313872-G-A
MyVariant Identifiers: chr10:g.30602801G>A (hg19) chr10:g.30313872G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313872G>A , CM000672.2:g.30313872G>A GRCh38
NC_000010.10:g.30602801G>A , CM000672.1:g.30602801G>A GRCh37
NC_000010.9:g.30642807G>A NCBI36
NG_028096.1:g.40467C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1486C>T MANE Select ENSP00000263063.3:p.Gln496Ter
ENST00000263063.8:c.1486C>T ENSP00000263063.3:p.Gln496Ter
ENST00000488290.5:n.3241C>T
NM_018109.3:c.1486C>T NP_060579.3:p.Gln496Ter
NM_018109.4:c.1486C>T MANE Select NP_060579.3:p.Gln496Ter
Search 100 bp 5'
Search 100 bp 3'