Canonical Allele Identifier: CA1899313816
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1840621149
gnomAD v4: 10-30313396-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313396C>A , CM000672.2:g.30313396C>A GRCh38
NC_000010.10:g.30602325C>A , CM000672.1:g.30602325C>A GRCh37
NC_000010.9:g.30642331C>A NCBI36
NG_028096.1:g.40943G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*213G>T MANE Select ENSP00000263063.3:n.*213G>T
ENST00000263063.8:c.*213G>T ENSP00000263063.3:n.*213G>T
ENST00000488290.5:n.3717G>T
NM_018109.3:c.*213G>T NP_060579.3:n.*213G>T
NM_018109.4:c.*213G>T MANE Select NP_060579.3:n.*213G>T
Search 100 bp 5'
Search 100 bp 3'