Canonical Allele Identifier: CA376433750
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1331593058
gnomAD v2: 10-30602558-T-A
gnomAD v4: 10-30313629-T-A
MyVariant Identifiers: chr10:g.30602558T>A (hg19) chr10:g.30313629T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313629T>A , CM000672.2:g.30313629T>A GRCh38
NC_000010.10:g.30602558T>A , CM000672.1:g.30602558T>A GRCh37
NC_000010.9:g.30642564T>A NCBI36
NG_028096.1:g.40710A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1729A>T MANE Select ENSP00000263063.3:p.Thr577Ser
ENST00000263063.8:c.1729A>T ENSP00000263063.3:p.Thr577Ser
ENST00000488290.5:n.3484A>T
NM_018109.3:c.1729A>T NP_060579.3:p.Thr577Ser
NM_018109.4:c.1729A>T MANE Select NP_060579.3:p.Thr577Ser
Search 100 bp 5'
Search 100 bp 3'