Canonical Allele Identifier: CA5459303

Gene: MTPAP

Linked Data

• ClinVar Variation Id: 1493195
• ClinVar RCV Id: RCV001984188
• dbSNP Id: rs141779374
• ExAC: 10:30638192 C / T
• gnomAD v2: 10-30638192-C-T
• gnomAD v3: 10-30349263-C-T
• gnomAD v4: 10-30349263-C-T
• MyVariant Identifiers: chr10:g.30638192C>T (hg19) ; chr10:g.30349263C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30349263C>T , CM000672.2:g.30349263C>T	GRCh38
NC_000010.10:g.30638192C>T , CM000672.1:g.30638192C>T	GRCh37
NC_000010.9:g.30678198C>T	NCBI36
NG_028096.1:g.5076G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263063.9:c.13G>A MANE Select	ENSP00000263063.3:p.Gly5Ser
ENST00000263063.8:c.13G>A	ENSP00000263063.3:p.Gly5Ser
ENST00000488290.5:n.1913-7623G>A
NM_018109.3:c.13G>A	NP_060579.3:p.Gly5Ser
NM_018109.4:c.13G>A MANE Select	NP_060579.3:p.Gly5Ser