Canonical Allele Identifier: CA376433731
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1840625540
gnomAD v3: 10-30313625-A-C
gnomAD v4: 10-30313625-A-C
MyVariant Identifiers: chr10:g.30602554A>C (hg19) chr10:g.30313625A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313625A>C , CM000672.2:g.30313625A>C GRCh38
NC_000010.10:g.30602554A>C , CM000672.1:g.30602554A>C GRCh37
NC_000010.9:g.30642560A>C NCBI36
NG_028096.1:g.40714T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1733T>G MANE Select ENSP00000263063.3:p.Ile578Ser
ENST00000263063.8:c.1733T>G ENSP00000263063.3:p.Ile578Ser
ENST00000488290.5:n.3488T>G
NM_018109.3:c.1733T>G NP_060579.3:p.Ile578Ser
NM_018109.4:c.1733T>G MANE Select NP_060579.3:p.Ile578Ser
Search 100 bp 5'
Search 100 bp 3'