Canonical Allele Identifier: CA468798035
Gene: MTPAP HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.30602667G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313738G>A , CM000672.2:g.30313738G>A GRCh38
NC_000010.10:g.30602667G>A , CM000672.1:g.30602667G>A GRCh37
NC_000010.9:g.30642673G>A NCBI36
NG_028096.1:g.40601C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263063.9:c.1620C>T MANE Select ENSP00000263063.3:p.Ser540=
ENST00000263063.8:c.1620C>T ENSP00000263063.3:p.Ser540=
ENST00000488290.5:n.3375C>T
NM_018109.3:c.1620C>T NP_060579.3:p.Ser540=
NM_018109.4:c.1620C>T MANE Select NP_060579.3:p.Ser540=