Canonical Allele Identifier: CA468799141
Gene: MTPAP HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.30602898T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313969T>G , CM000672.2:g.30313969T>G GRCh38
NC_000010.10:g.30602898T>G , CM000672.1:g.30602898T>G GRCh37
NC_000010.9:g.30642904T>G NCBI36
NG_028096.1:g.40370A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1389A>C MANE Select ENSP00000263063.3:p.Gly463=
ENST00000263063.8:c.1389A>C ENSP00000263063.3:p.Gly463=
ENST00000488290.5:n.3144A>C
NM_018109.3:c.1389A>C NP_060579.3:p.Gly463=
NM_018109.4:c.1389A>C MANE Select NP_060579.3:p.Gly463=