Canonical Allele Identifier: CA468798029
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1257725055
gnomAD v2: 10-30602655-C-T
gnomAD v3: 10-30313726-C-T
gnomAD v4: 10-30313726-C-T
MyVariant Identifiers: chr10:g.30602655C>T (hg19) chr10:g.30313726C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313726C>T , CM000672.2:g.30313726C>T GRCh38
NC_000010.10:g.30602655C>T , CM000672.1:g.30602655C>T GRCh37
NC_000010.9:g.30642661C>T NCBI36
NG_028096.1:g.40613G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263063.9:c.1632G>A MANE Select ENSP00000263063.3:p.Lys544=
ENST00000263063.8:c.1632G>A ENSP00000263063.3:p.Lys544=
ENST00000488290.5:n.3387G>A
NM_018109.3:c.1632G>A NP_060579.3:p.Lys544=
NM_018109.4:c.1632G>A MANE Select NP_060579.3:p.Lys544=
Search 100 bp 5'
Search 100 bp 3'