Canonical Allele Identifier: CA205301279
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1025986554
gnomAD v2: 10-30603164-C-A
gnomAD v3: 10-30314235-C-A
gnomAD v4: 10-30314235-C-A
MyVariant Identifiers: chr10:g.30603164C>A (hg19) chr10:g.30314235C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30314235C>A , CM000672.2:g.30314235C>A GRCh38
NC_000010.10:g.30603164C>A , CM000672.1:g.30603164C>A GRCh37
NC_000010.9:g.30643170C>A NCBI36
NG_028096.1:g.40104G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1387-264G>T MANE Select ENSP00000263063.3:n.1387-264G>T
ENST00000263063.8:c.1387-264G>T ENSP00000263063.3:n.1387-264G>T
ENST00000488290.5:n.3142-264G>T
NM_018109.3:c.1387-264G>T NP_060579.3:n.1387-264G>T
NM_018109.4:c.1387-264G>T MANE Select NP_060579.3:n.1387-264G>T
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