Canonical Allele Identifier: CA468798719
Gene: MTPAP HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.30602796T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313867T>C , CM000672.2:g.30313867T>C GRCh38
NC_000010.10:g.30602796T>C , CM000672.1:g.30602796T>C GRCh37
NC_000010.9:g.30642802T>C NCBI36
NG_028096.1:g.40472A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1491A>G MANE Select ENSP00000263063.3:p.Lys497=
ENST00000263063.8:c.1491A>G ENSP00000263063.3:p.Lys497=
ENST00000488290.5:n.3246A>G
NM_018109.3:c.1491A>G NP_060579.3:p.Lys497=
NM_018109.4:c.1491A>G MANE Select NP_060579.3:p.Lys497=