Canonical Allele Identifier: CA376433844
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1271354426
gnomAD v2: 10-30602579-T-A
gnomAD v4: 10-30313650-T-A
MyVariant Identifiers: chr10:g.30602579T>A (hg19) chr10:g.30313650T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313650T>A , CM000672.2:g.30313650T>A GRCh38
NC_000010.10:g.30602579T>A , CM000672.1:g.30602579T>A GRCh37
NC_000010.9:g.30642585T>A NCBI36
NG_028096.1:g.40689A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1708A>T MANE Select ENSP00000263063.3:p.Thr570Ser
ENST00000263063.8:c.1708A>T ENSP00000263063.3:p.Thr570Ser
ENST00000488290.5:n.3463A>T
NM_018109.3:c.1708A>T NP_060579.3:p.Thr570Ser
NM_018109.4:c.1708A>T MANE Select NP_060579.3:p.Thr570Ser
Search 100 bp 5'
Search 100 bp 3'