Canonical Allele Identifier: CA468798005
Gene: MTPAP HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.30602610T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313681T>C , CM000672.2:g.30313681T>C GRCh38
NC_000010.10:g.30602610T>C , CM000672.1:g.30602610T>C GRCh37
NC_000010.9:g.30642616T>C NCBI36
NG_028096.1:g.40658A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1677A>G MANE Select ENSP00000263063.3:p.Glu559=
ENST00000263063.8:c.1677A>G ENSP00000263063.3:p.Glu559=
ENST00000488290.5:n.3432A>G
NM_018109.3:c.1677A>G NP_060579.3:p.Glu559=
NM_018109.4:c.1677A>G MANE Select NP_060579.3:p.Glu559=
Search 100 bp 5'
Search 100 bp 3'