Canonical Allele Identifier: CA5458940
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs754571824

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313879G>A , CM000672.2:g.30313879G>A GRCh38
NC_000010.10:g.30602808G>A , CM000672.1:g.30602808G>A GRCh37
NC_000010.9:g.30642814G>A NCBI36
NG_028096.1:g.40460C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1479C>T MANE Select ENSP00000263063.3:p.Ser493=
ENST00000263063.8:c.1479C>T ENSP00000263063.3:p.Ser493=
ENST00000488290.5:n.3234C>T
NM_018109.3:c.1479C>T NP_060579.3:p.Ser493=
NM_018109.4:c.1479C>T MANE Select NP_060579.3:p.Ser493=