Canonical Allele Identifier: CA592449198

Gene: MTPAP

Linked Data

• dbSNP Id: rs1332047752
• gnomAD v2: 10-30602475-T-C
• gnomAD v3: 10-30313546-T-C
• gnomAD v4: 10-30313546-T-C
• MyVariant Identifiers: chr10:g.30602475T>C (hg19) ; chr10:g.30313546T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30313546T>C , CM000672.2:g.30313546T>C	GRCh38
NC_000010.10:g.30602475T>C , CM000672.1:g.30602475T>C	GRCh37
NC_000010.9:g.30642481T>C	NCBI36
NG_028096.1:g.40793A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263063.9:c.*63A>G MANE Select	ENSP00000263063.3:n.*63A>G
ENST00000263063.8:c.*63A>G	ENSP00000263063.3:n.*63A>G
ENST00000488290.5:n.3567A>G
NM_018109.3:c.*63A>G	NP_060579.3:n.*63A>G
NM_018109.4:c.*63A>G MANE Select	NP_060579.3:n.*63A>G