Canonical Allele Identifier: CA2631641454
Gene: PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797667-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797667A>C , CM000678.2:g.8797667A>C GRCh38
NC_000016.9:g.8891524A>C , CM000678.1:g.8891524A>C GRCh37
NC_000016.8:g.8799025A>C NCBI36
NG_009209.1:g.4855A>C
NG_033146.1:g.4982T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4132A>C ENSP00000457956.1:n.-15-4132A>C