Canonical Allele Identifier: CA376433919
Gene: MTPAP HGNC NCBI

Linked Data

ClinVar Variation Id: 2006140
ClinVar RCV Id: RCV002825740
MyVariant Identifiers: chr10:g.30602599C>G (hg19) chr10:g.30313670C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313670C>G , CM000672.2:g.30313670C>G GRCh38
NC_000010.10:g.30602599C>G , CM000672.1:g.30602599C>G GRCh37
NC_000010.9:g.30642605C>G NCBI36
NG_028096.1:g.40669G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1688G>C MANE Select ENSP00000263063.3:p.Gly563Ala
ENST00000263063.8:c.1688G>C ENSP00000263063.3:p.Gly563Ala
ENST00000488290.5:n.3443G>C
NM_018109.3:c.1688G>C NP_060579.3:p.Gly563Ala
NM_018109.4:c.1688G>C MANE Select NP_060579.3:p.Gly563Ala
Search 100 bp 5'
Search 100 bp 3'