Canonical Allele Identifier: CA376434792
Gene: MTPAP HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000263063.9:c.1431G>C MANE Select ENSP00000263063.3:p.Gln477His
ENST00000263063.8:c.1431G>C ENSP00000263063.3:p.Gln477His
ENST00000488290.5:n.3186G>C
NM_018109.3:c.1431G>C NP_060579.3:p.Gln477His
NM_018109.4:c.1431G>C MANE Select NP_060579.3:p.Gln477His