Canonical Allele Identifier: CA376434821
Gene: MTPAP HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.30602872G>C (hg19) chr10:g.30313943G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313943G>C , CM000672.2:g.30313943G>C GRCh38
NC_000010.10:g.30602872G>C , CM000672.1:g.30602872G>C GRCh37
NC_000010.9:g.30642878G>C NCBI36
NG_028096.1:g.40396C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1415C>G MANE Select ENSP00000263063.3:p.Ser472Cys
ENST00000263063.8:c.1415C>G ENSP00000263063.3:p.Ser472Cys
ENST00000488290.5:n.3170C>G
NM_018109.3:c.1415C>G NP_060579.3:p.Ser472Cys
NM_018109.4:c.1415C>G MANE Select NP_060579.3:p.Ser472Cys
Search 100 bp 5'
Search 100 bp 3'