Canonical Allele Identifier: CA2787135251
Gene: MTPAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313405T>C , CM000672.2:g.30313405T>C GRCh38
NC_000010.10:g.30602334T>C , CM000672.1:g.30602334T>C GRCh37
NC_000010.9:g.30642340T>C NCBI36
NG_028096.1:g.40934A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*204A>G MANE Select ENSP00000263063.3:n.*204A>G
ENST00000263063.8:c.*204A>G ENSP00000263063.3:n.*204A>G
ENST00000488290.5:n.3708A>G
NM_018109.3:c.*204A>G NP_060579.3:n.*204A>G
NM_018109.4:c.*204A>G MANE Select NP_060579.3:n.*204A>G