Canonical Allele Identifier: CA376433985
Gene: MTPAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313687C>A , CM000672.2:g.30313687C>A GRCh38
NC_000010.10:g.30602616C>A , CM000672.1:g.30602616C>A GRCh37
NC_000010.9:g.30642622C>A NCBI36
NG_028096.1:g.40652G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1671G>T MANE Select ENSP00000263063.3:p.Leu557Phe
ENST00000263063.8:c.1671G>T ENSP00000263063.3:p.Leu557Phe
ENST00000488290.5:n.3426G>T
NM_018109.3:c.1671G>T NP_060579.3:p.Leu557Phe
NM_018109.4:c.1671G>T MANE Select NP_060579.3:p.Leu557Phe