Canonical Allele Identifier: CA376433992
Gene: MTPAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313689A>C , CM000672.2:g.30313689A>C GRCh38
NC_000010.10:g.30602618A>C , CM000672.1:g.30602618A>C GRCh37
NC_000010.9:g.30642624A>C NCBI36
NG_028096.1:g.40650T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1669T>G MANE Select ENSP00000263063.3:p.Leu557Val
ENST00000263063.8:c.1669T>G ENSP00000263063.3:p.Leu557Val
ENST00000488290.5:n.3424T>G
NM_018109.3:c.1669T>G NP_060579.3:p.Leu557Val
NM_018109.4:c.1669T>G MANE Select NP_060579.3:p.Leu557Val