Canonical Allele Identifier: CA5458948
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs755818974
ExAC: 10:30602868 A / AT
MyVariant Identifiers: chr10:g.30602868_30602869insT (hg19) chr10:g.30313939_30313940insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313939_30313940insT , CM000672.2:g.30313939_30313940insT GRCh38
NC_000010.10:g.30602868_30602869insT , CM000672.1:g.30602868_30602869insT GRCh37
NC_000010.9:g.30642874_30642875insT NCBI36
NG_028096.1:g.40399_40400insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1418_1419insA MANE Select ENSP00000263063.3:p.Leu474SerfsTer8
ENST00000263063.8:c.1418_1419insA ENSP00000263063.3:p.Leu474SerfsTer8
ENST00000488290.5:n.3173_3174insA
NM_018109.3:c.1418_1419insA NP_060579.3:p.Leu474SerfsTer8
NM_018109.4:c.1418_1419insA MANE Select NP_060579.3:p.Leu474SerfsTer8
Search 100 bp 5'
Search 100 bp 3'