Canonical Allele Identifier: CA2631641609
Gene: PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797740-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797740G>A , CM000678.2:g.8797740G>A GRCh38
NC_000016.9:g.8891597G>A , CM000678.1:g.8891597G>A GRCh37
NC_000016.8:g.8799098G>A NCBI36
NG_009209.1:g.4928G>A
NG_033146.1:g.4909C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-143G>A ENSP00000507849.1:n.-143G>A
ENST00000566983.5:c.-15-4059G>A ENSP00000457956.1:n.-15-4059G>A