Canonical Allele Identifier: CA663650002
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1185764775
gnomAD v3: 10-30313485-A-G
gnomAD v4: 10-30313485-A-G
MyVariant Identifiers: chr10:g.30602414A>G (hg19) chr10:g.30313485A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313485A>G , CM000672.2:g.30313485A>G GRCh38
NC_000010.10:g.30602414A>G , CM000672.1:g.30602414A>G GRCh37
NC_000010.9:g.30642420A>G NCBI36
NG_028096.1:g.40854T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*124T>C MANE Select ENSP00000263063.3:n.*124T>C
ENST00000263063.8:c.*124T>C ENSP00000263063.3:n.*124T>C
ENST00000488290.5:n.3628T>C
NM_018109.3:c.*124T>C NP_060579.3:n.*124T>C
NM_018109.4:c.*124T>C MANE Select NP_060579.3:n.*124T>C
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