Canonical Allele Identifier: CA663649938
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1202890258
gnomAD v2: 10-30602351-G-A
gnomAD v3: 10-30313422-G-A
gnomAD v4: 10-30313422-G-A
MyVariant Identifiers: chr10:g.30602351G>A (hg19) chr10:g.30313422G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313422G>A , CM000672.2:g.30313422G>A GRCh38
NC_000010.10:g.30602351G>A , CM000672.1:g.30602351G>A GRCh37
NC_000010.9:g.30642357G>A NCBI36
NG_028096.1:g.40917C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*187C>T MANE Select ENSP00000263063.3:n.*187C>T
ENST00000263063.8:c.*187C>T ENSP00000263063.3:n.*187C>T
ENST00000488290.5:n.3691C>T
NM_018109.3:c.*187C>T NP_060579.3:n.*187C>T
NM_018109.4:c.*187C>T MANE Select NP_060579.3:n.*187C>T
Search 100 bp 5'
Search 100 bp 3'