Canonical Allele Identifier: CA592781549

Gene: MTPAP

Linked Data

• dbSNP Id: rs1293335583
• gnomAD v2: 10-30603147-T-C
• gnomAD v3: 10-30314218-T-C
• gnomAD v4: 10-30314218-T-C
• MyVariant Identifiers: chr10:g.30603147T>C (hg19) ; chr10:g.30314218T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30314218T>C , CM000672.2:g.30314218T>C	GRCh38
NC_000010.10:g.30603147T>C , CM000672.1:g.30603147T>C	GRCh37
NC_000010.9:g.30643153T>C	NCBI36
NG_028096.1:g.40121A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263063.9:c.1387-247A>G MANE Select	ENSP00000263063.3:n.1387-247A>G
ENST00000263063.8:c.1387-247A>G	ENSP00000263063.3:n.1387-247A>G
ENST00000488290.5:n.3142-247A>G
NM_018109.3:c.1387-247A>G	NP_060579.3:n.1387-247A>G
NM_018109.4:c.1387-247A>G MANE Select	NP_060579.3:n.1387-247A>G