Canonical Allele Identifier: CA2631641540
Gene: PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797702-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797702C>T , CM000678.2:g.8797702C>T GRCh38
NC_000016.9:g.8891559C>T , CM000678.1:g.8891559C>T GRCh37
NC_000016.8:g.8799060C>T NCBI36
NG_009209.1:g.4890C>T
NG_033146.1:g.4947G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4097C>T ENSP00000457956.1:n.-15-4097C>T