Canonical Allele Identifier: CA5458936
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs754233439
ExAC: 10:30602780 G / A
gnomAD v2: 10-30602780-G-A
gnomAD v3: 10-30313851-G-A
gnomAD v4: 10-30313851-G-A
COSMIC: COSM427463 COSM427464
MyVariant Identifiers: chr10:g.30602780G>A (hg19) chr10:g.30313851G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313851G>A , CM000672.2:g.30313851G>A GRCh38
NC_000010.10:g.30602780G>A , CM000672.1:g.30602780G>A GRCh37
NC_000010.9:g.30642786G>A NCBI36
NG_028096.1:g.40488C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263063.9:c.1507C>T MANE Select ENSP00000263063.3:p.Arg503Ter
ENST00000263063.8:c.1507C>T ENSP00000263063.3:p.Arg503Ter
ENST00000488290.5:n.3262C>T
NM_018109.3:c.1507C>T NP_060579.3:p.Arg503Ter
NM_018109.4:c.1507C>T MANE Select NP_060579.3:p.Arg503Ter
Search 100 bp 5'
Search 100 bp 3'