Canonical Allele Identifier: CA376434641
Gene: MTPAP HGNC NCBI

Linked Data

gnomAD v4: 10-30313863-C-G
MyVariant Identifiers: chr10:g.30602792C>G (hg19) chr10:g.30313863C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313863C>G , CM000672.2:g.30313863C>G GRCh38
NC_000010.10:g.30602792C>G , CM000672.1:g.30602792C>G GRCh37
NC_000010.9:g.30642798C>G NCBI36
NG_028096.1:g.40476G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1495G>C MANE Select ENSP00000263063.3:p.Val499Leu
ENST00000263063.8:c.1495G>C ENSP00000263063.3:p.Val499Leu
ENST00000488290.5:n.3250G>C
NM_018109.3:c.1495G>C NP_060579.3:p.Val499Leu
NM_018109.4:c.1495G>C MANE Select NP_060579.3:p.Val499Leu
Search 100 bp 5'
Search 100 bp 3'