Canonical Allele Identifier: CA5458968

Gene: MTPAP

Linked Data

• ClinVar Variation Id: 506832
• ClinVar RCV Id: RCV001697428
• dbSNP Id: rs369322127
• ExAC: 10:30604886 A / G
• gnomAD v2: 10-30604886-A-G
• gnomAD v3: 10-30315957-A-G
• gnomAD v4: 10-30315957-A-G
• MyVariant Identifiers: chr10:g.30604886A>G (hg19) ; chr10:g.30315957A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30315957A>G , CM000672.2:g.30315957A>G	GRCh38
NC_000010.10:g.30604886A>G , CM000672.1:g.30604886A>G	GRCh37
NC_000010.9:g.30644892A>G	NCBI36
NG_028096.1:g.38382T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263063.9:c.1386+6T>C MANE Select	ENSP00000263063.3:n.1386+6T>C
ENST00000263063.8:c.1386+6T>C	ENSP00000263063.3:n.1386+6T>C
ENST00000488290.5:n.3141+6T>C
NM_018109.3:c.1386+6T>C	NP_060579.3:n.1386+6T>C
NM_018109.4:c.1386+6T>C MANE Select	NP_060579.3:n.1386+6T>C