Canonical Allele Identifier: CA205301319
Gene: MTPAP HGNC NCBI

Linked Data

ClinVar Variation Id: 673194
ClinVar RCV Id: RCV000832459
dbSNP Id: rs76145367
gnomAD v2: 10-30603195-T-C
gnomAD v3: 10-30314266-T-C
gnomAD v4: 10-30314266-T-C
MyVariant Identifiers: chr10:g.30603195T>C (hg19) chr10:g.30314266T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30314266T>C , CM000672.2:g.30314266T>C GRCh38
NC_000010.10:g.30603195T>C , CM000672.1:g.30603195T>C GRCh37
NC_000010.9:g.30643201T>C NCBI36
NG_028096.1:g.40073A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1387-295A>G MANE Select ENSP00000263063.3:n.1387-295A>G
ENST00000263063.8:c.1387-295A>G ENSP00000263063.3:n.1387-295A>G
ENST00000488290.5:n.3142-295A>G
NM_018109.3:c.1387-295A>G NP_060579.3:n.1387-295A>G
NM_018109.4:c.1387-295A>G MANE Select NP_060579.3:n.1387-295A>G
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