Canonical Allele Identifier: CA468798032
Gene: MTPAP HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.30602661G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313732G>C , CM000672.2:g.30313732G>C GRCh38
NC_000010.10:g.30602661G>C , CM000672.1:g.30602661G>C GRCh37
NC_000010.9:g.30642667G>C NCBI36
NG_028096.1:g.40607C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000263063.9:c.1626C>G MANE Select ENSP00000263063.3:p.Thr542=
ENST00000263063.8:c.1626C>G ENSP00000263063.3:p.Thr542=
ENST00000488290.5:n.3381C>G
NM_018109.3:c.1626C>G NP_060579.3:p.Thr542=
NM_018109.4:c.1626C>G MANE Select NP_060579.3:p.Thr542=