Canonical Allele Identifier: CA376434815
Gene: MTPAP HGNC NCBI

Linked Data

gnomAD v4: 10-30313940-G-C
MyVariant Identifiers: chr10:g.30602869G>C (hg19) chr10:g.30313940G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313940G>C , CM000672.2:g.30313940G>C GRCh38
NC_000010.10:g.30602869G>C , CM000672.1:g.30602869G>C GRCh37
NC_000010.9:g.30642875G>C NCBI36
NG_028096.1:g.40399C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1418C>G MANE Select ENSP00000263063.3:p.Pro473Arg
ENST00000263063.8:c.1418C>G ENSP00000263063.3:p.Pro473Arg
ENST00000488290.5:n.3173C>G
NM_018109.3:c.1418C>G NP_060579.3:p.Pro473Arg
NM_018109.4:c.1418C>G MANE Select NP_060579.3:p.Pro473Arg
Search 100 bp 5'
Search 100 bp 3'