Canonical Allele Identifier: CA205300701
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs967258488
gnomAD v2: 10-30602434-C-G
gnomAD v3: 10-30313505-C-G
gnomAD v4: 10-30313505-C-G
MyVariant Identifiers: chr10:g.30602434C>G (hg19) chr10:g.30313505C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313505C>G , CM000672.2:g.30313505C>G GRCh38
NC_000010.10:g.30602434C>G , CM000672.1:g.30602434C>G GRCh37
NC_000010.9:g.30642440C>G NCBI36
NG_028096.1:g.40834G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*104G>C MANE Select ENSP00000263063.3:n.*104G>C
ENST00000263063.8:c.*104G>C ENSP00000263063.3:n.*104G>C
ENST00000488290.5:n.3608G>C
NM_018109.3:c.*104G>C NP_060579.3:n.*104G>C
NM_018109.4:c.*104G>C MANE Select NP_060579.3:n.*104G>C
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