Canonical Allele Identifier: CA376434728
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1840631334
gnomAD v3: 10-30313899-T-A
gnomAD v4: 10-30313899-T-A
MyVariant Identifiers: chr10:g.30602828T>A (hg19) chr10:g.30313899T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313899T>A , CM000672.2:g.30313899T>A GRCh38
NC_000010.10:g.30602828T>A , CM000672.1:g.30602828T>A GRCh37
NC_000010.9:g.30642834T>A NCBI36
NG_028096.1:g.40440A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1459A>T MANE Select ENSP00000263063.3:p.Ser487Cys
ENST00000263063.8:c.1459A>T ENSP00000263063.3:p.Ser487Cys
ENST00000488290.5:n.3214A>T
NM_018109.3:c.1459A>T NP_060579.3:p.Ser487Cys
NM_018109.4:c.1459A>T MANE Select NP_060579.3:p.Ser487Cys
Search 100 bp 5'
Search 100 bp 3'