Canonical Allele Identifier: CA2631641467
Gene: PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797672-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797672G>A , CM000678.2:g.8797672G>A GRCh38
NC_000016.9:g.8891529G>A , CM000678.1:g.8891529G>A GRCh37
NC_000016.8:g.8799030G>A NCBI36
NG_009209.1:g.4860G>A
NG_033146.1:g.4977C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4127G>A ENSP00000457956.1:n.-15-4127G>A