Canonical Allele Identifier: CA592781541
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1333503596
gnomAD v2: 10-30602942-A-C
gnomAD v3: 10-30314013-A-C
gnomAD v4: 10-30314013-A-C
MyVariant Identifiers: chr10:g.30602942A>C (hg19) chr10:g.30314013A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30314013A>C , CM000672.2:g.30314013A>C GRCh38
NC_000010.10:g.30602942A>C , CM000672.1:g.30602942A>C GRCh37
NC_000010.9:g.30642948A>C NCBI36
NG_028096.1:g.40326T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1387-42T>G MANE Select ENSP00000263063.3:n.1387-42T>G
ENST00000263063.8:c.1387-42T>G ENSP00000263063.3:n.1387-42T>G
ENST00000488290.5:n.3142-42T>G
NM_018109.3:c.1387-42T>G NP_060579.3:n.1387-42T>G
NM_018109.4:c.1387-42T>G MANE Select NP_060579.3:n.1387-42T>G
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