Canonical Allele Identifier: CA2608695700
Gene: MTPAP HGNC NCBI

Linked Data

gnomAD v4: 10-30313606-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313606C>G , CM000672.2:g.30313606C>G GRCh38
NC_000010.10:g.30602535C>G , CM000672.1:g.30602535C>G GRCh37
NC_000010.9:g.30642541C>G NCBI36
NG_028096.1:g.40733G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*3G>C MANE Select ENSP00000263063.3:n.*3G>C
ENST00000263063.8:c.*3G>C ENSP00000263063.3:n.*3G>C
ENST00000488290.5:n.3507G>C
NM_018109.3:c.*3G>C NP_060579.3:n.*3G>C
NM_018109.4:c.*3G>C MANE Select NP_060579.3:n.*3G>C
Search 100 bp 5'
Search 100 bp 3'