Canonical Allele Identifier: CA2631641442
Gene: PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797656-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797656C>A , CM000678.2:g.8797656C>A GRCh38
NC_000016.9:g.8891513C>A , CM000678.1:g.8891513C>A GRCh37
NC_000016.8:g.8799014C>A NCBI36
NG_009209.1:g.4844C>A
NG_033146.1:g.4993G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4143C>A ENSP00000457956.1:n.-15-4143C>A