Canonical Allele Identifier: CA5458949
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs779931713
ExAC: 10:30602871 A / ATTT
MyVariant Identifiers: chr10:g.30602871_30602872insTTT (hg19) chr10:g.30313942_30313943insTTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313942_30313943insTTT , CM000672.2:g.30313942_30313943insTTT GRCh38
NC_000010.10:g.30602871_30602872insTTT , CM000672.1:g.30602871_30602872insTTT GRCh37
NC_000010.9:g.30642877_30642878insTTT NCBI36
NG_028096.1:g.40396_40397insAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1415_1416insAAA MANE Select ENSP00000263063.3:p.Ser472_Pro473insAsn
ENST00000263063.8:c.1415_1416insAAA ENSP00000263063.3:p.Ser472_Pro473insAsn
ENST00000488290.5:n.3170_3171insAAA
NM_018109.3:c.1415_1416insAAA NP_060579.3:p.Ser472_Pro473insAsn
NM_018109.4:c.1415_1416insAAA MANE Select NP_060579.3:p.Ser472_Pro473insAsn
Search 100 bp 5'
Search 100 bp 3'