Canonical Allele Identifier: CA2575906306
Gene: PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797670-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797670G>C , CM000678.2:g.8797670G>C GRCh38
NC_000016.9:g.8891527G>C , CM000678.1:g.8891527G>C GRCh37
NC_000016.8:g.8799028G>C NCBI36
NG_009209.1:g.4858G>C
NG_033146.1:g.4979C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4129G>C ENSP00000457956.1:n.-15-4129G>C