Canonical Allele Identifier: CA5458963

Gene: MTPAP

Linked Data

• dbSNP Id: rs200827129
• ExAC: 10:30602938 C / A
• gnomAD v2: 10-30602938-C-A
• gnomAD v3: 10-30314009-C-A
• gnomAD v4: 10-30314009-C-A
• MyVariant Identifiers: chr10:g.30602938C>A (hg19) ; chr10:g.30314009C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30314009C>A , CM000672.2:g.30314009C>A	GRCh38
NC_000010.10:g.30602938C>A , CM000672.1:g.30602938C>A	GRCh37
NC_000010.9:g.30642944C>A	NCBI36
NG_028096.1:g.40330G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263063.9:c.1387-38G>T MANE Select	ENSP00000263063.3:n.1387-38G>T
ENST00000263063.8:c.1387-38G>T	ENSP00000263063.3:n.1387-38G>T
ENST00000488290.5:n.3142-38G>T
NM_018109.3:c.1387-38G>T	NP_060579.3:n.1387-38G>T
NM_018109.4:c.1387-38G>T MANE Select	NP_060579.3:n.1387-38G>T