Canonical Allele Identifier: CA468797968
Gene: MTPAP HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.30602553A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313624A>G , CM000672.2:g.30313624A>G GRCh38
NC_000010.10:g.30602553A>G , CM000672.1:g.30602553A>G GRCh37
NC_000010.9:g.30642559A>G NCBI36
NG_028096.1:g.40715T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1734T>C MANE Select ENSP00000263063.3:p.Ile578=
ENST00000263063.8:c.1734T>C ENSP00000263063.3:p.Ile578=
ENST00000488290.5:n.3489T>C
NM_018109.3:c.1734T>C NP_060579.3:p.Ile578=
NM_018109.4:c.1734T>C MANE Select NP_060579.3:p.Ile578=
Search 100 bp 5'
Search 100 bp 3'