Canonical Allele Identifier: CA2631641441
Gene: PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797656-C-T
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4143C>T ENSP00000457956.1:n.-15-4143C>T
Search 100 bp 5'
Search 100 bp 3'