Canonical Allele Identifier: CA2631641695
Gene: PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797785-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797785T>A , CM000678.2:g.8797785T>A GRCh38
NC_000016.9:g.8891642T>A , CM000678.1:g.8891642T>A GRCh37
NC_000016.8:g.8799143T>A NCBI36
NG_009209.1:g.4973T>A
NG_033146.1:g.4864A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-98T>A ENSP00000507849.1:n.-98T>A
ENST00000566983.5:c.-15-4014T>A ENSP00000457956.1:n.-15-4014T>A