Canonical Allele Identifier: CA376434793
Gene: MTPAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313928T>A , CM000672.2:g.30313928T>A GRCh38
NC_000010.10:g.30602857T>A , CM000672.1:g.30602857T>A GRCh37
NC_000010.9:g.30642863T>A NCBI36
NG_028096.1:g.40411A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263063.9:c.1430A>T MANE Select ENSP00000263063.3:p.Gln477Leu
ENST00000263063.8:c.1430A>T ENSP00000263063.3:p.Gln477Leu
ENST00000488290.5:n.3185A>T
NM_018109.3:c.1430A>T NP_060579.3:p.Gln477Leu
NM_018109.4:c.1430A>T MANE Select NP_060579.3:p.Gln477Leu