Canonical Allele Identifier: CA2631641444
Gene: PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797658-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797658G>T , CM000678.2:g.8797658G>T GRCh38
NC_000016.9:g.8891515G>T , CM000678.1:g.8891515G>T GRCh37
NC_000016.8:g.8799016G>T NCBI36
NG_009209.1:g.4846G>T
NG_033146.1:g.4991C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4141G>T ENSP00000457956.1:n.-15-4141G>T