Canonical Allele Identifier: CA1899313826
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1564517163
gnomAD v4: 10-30313409-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313409A>G , CM000672.2:g.30313409A>G GRCh38
NC_000010.10:g.30602338A>G , CM000672.1:g.30602338A>G GRCh37
NC_000010.9:g.30642344A>G NCBI36
NG_028096.1:g.40930T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*200T>C MANE Select ENSP00000263063.3:n.*200T>C
ENST00000263063.8:c.*200T>C ENSP00000263063.3:n.*200T>C
ENST00000488290.5:n.3704T>C
NM_018109.3:c.*200T>C NP_060579.3:n.*200T>C
NM_018109.4:c.*200T>C MANE Select NP_060579.3:n.*200T>C
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