Canonical Allele Identifier: CA5458917
Gene: MTPAP HGNC NCBI

Linked Data

ClinVar Variation Id: 2182204
ClinVar RCV Id: RCV002610729
dbSNP Id: rs756511637
ExAC: 10:30602663 T / C
gnomAD v2: 10-30602663-T-C
gnomAD v3: 10-30313734-T-C
gnomAD v4: 10-30313734-T-C
MyVariant Identifiers: chr10:g.30602663T>C (hg19) chr10:g.30313734T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313734T>C , CM000672.2:g.30313734T>C GRCh38
NC_000010.10:g.30602663T>C , CM000672.1:g.30602663T>C GRCh37
NC_000010.9:g.30642669T>C NCBI36
NG_028096.1:g.40605A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000263063.9:c.1624A>G MANE Select ENSP00000263063.3:p.Thr542Ala
ENST00000263063.8:c.1624A>G ENSP00000263063.3:p.Thr542Ala
ENST00000488290.5:n.3379A>G
NM_018109.3:c.1624A>G NP_060579.3:p.Thr542Ala
NM_018109.4:c.1624A>G MANE Select NP_060579.3:p.Thr542Ala
Search 100 bp 5'
Search 100 bp 3'