Canonical Allele Identifier: CA5458946
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs770629958

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313936C>G , CM000672.2:g.30313936C>G GRCh38
NC_000010.10:g.30602865C>G , CM000672.1:g.30602865C>G GRCh37
NC_000010.9:g.30642871C>G NCBI36
NG_028096.1:g.40403G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000263063.9:c.1422G>C MANE Select ENSP00000263063.3:p.Leu474=
ENST00000263063.8:c.1422G>C ENSP00000263063.3:p.Leu474=
ENST00000488290.5:n.3177G>C
NM_018109.3:c.1422G>C NP_060579.3:p.Leu474=
NM_018109.4:c.1422G>C MANE Select NP_060579.3:p.Leu474=