Canonical Allele Identifier: CA2608695626
Gene: MTPAP HGNC NCBI

Linked Data

gnomAD v4: 10-30313472-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313472G>C , CM000672.2:g.30313472G>C GRCh38
NC_000010.10:g.30602401G>C , CM000672.1:g.30602401G>C GRCh37
NC_000010.9:g.30642407G>C NCBI36
NG_028096.1:g.40867C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*137C>G MANE Select ENSP00000263063.3:n.*137C>G
ENST00000263063.8:c.*137C>G ENSP00000263063.3:n.*137C>G
ENST00000488290.5:n.3641C>G
NM_018109.3:c.*137C>G NP_060579.3:n.*137C>G
NM_018109.4:c.*137C>G MANE Select NP_060579.3:n.*137C>G
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