Canonical Allele Identifier: CA468798922
Gene: MTPAP HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.30602856C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313927C>T , CM000672.2:g.30313927C>T GRCh38
NC_000010.10:g.30602856C>T , CM000672.1:g.30602856C>T GRCh37
NC_000010.9:g.30642862C>T NCBI36
NG_028096.1:g.40412G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263063.9:c.1431G>A MANE Select ENSP00000263063.3:p.Gln477=
ENST00000263063.8:c.1431G>A ENSP00000263063.3:p.Gln477=
ENST00000488290.5:n.3186G>A
NM_018109.3:c.1431G>A NP_060579.3:p.Gln477=
NM_018109.4:c.1431G>A MANE Select NP_060579.3:p.Gln477=