Canonical Allele Identifier: CA2575906314
Gene: PMM2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797711A>T , CM000678.2:g.8797711A>T GRCh38
NC_000016.9:g.8891568A>T , CM000678.1:g.8891568A>T GRCh37
NC_000016.8:g.8799069A>T NCBI36
NG_009209.1:g.4899A>T
NG_033146.1:g.4938T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4088A>T ENSP00000457956.1:n.-15-4088A>T
Search 100 bp 5'
Search 100 bp 3'