Canonical Allele Identifier: CA926395440

Gene: MTPAP

Linked Data

• dbSNP Id: rs1030160027
• gnomAD v3: 10-30314329-GA-G
• gnomAD v4: 10-30314329-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30314336del , CM000672.2:g.30314336del	GRCh38
NC_000010.10:g.30603265del , CM000672.1:g.30603265del	GRCh37
NC_000010.9:g.30643271del	NCBI36
NG_028096.1:g.40009del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263063.9:c.1387-359del MANE Select	ENSP00000263063.3:n.1387-359del
ENST00000263063.8:c.1387-359del	ENSP00000263063.3:n.1387-359del
ENST00000488290.5:n.3142-359del
NM_018109.3:c.1387-359del	NP_060579.3:n.1387-359del
NM_018109.4:c.1387-359del MANE Select	NP_060579.3:n.1387-359del