Canonical Allele Identifier: CA592449235
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1354350604
gnomAD v2: 10-30603219-A-G
gnomAD v3: 10-30314290-A-G
gnomAD v4: 10-30314290-A-G
MyVariant Identifiers: chr10:g.30603219A>G (hg19) chr10:g.30314290A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30314290A>G , CM000672.2:g.30314290A>G GRCh38
NC_000010.10:g.30603219A>G , CM000672.1:g.30603219A>G GRCh37
NC_000010.9:g.30643225A>G NCBI36
NG_028096.1:g.40049T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1387-319T>C MANE Select ENSP00000263063.3:n.1387-319T>C
ENST00000263063.8:c.1387-319T>C ENSP00000263063.3:n.1387-319T>C
ENST00000488290.5:n.3142-319T>C
NM_018109.3:c.1387-319T>C NP_060579.3:n.1387-319T>C
NM_018109.4:c.1387-319T>C MANE Select NP_060579.3:n.1387-319T>C
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