Canonical Allele Identifier: CA277481235
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs7359468
gnomAD v4: 16-8797690-G-A
MyVariant Identifiers: chr16:g.8891547G>A (hg19) chr16:g.8797690G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797690G>A , CM000678.2:g.8797690G>A GRCh38
NC_000016.9:g.8891547G>A , CM000678.1:g.8891547G>A GRCh37
NC_000016.8:g.8799048G>A NCBI36
NG_009209.1:g.4878G>A
NG_033146.1:g.4959C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4109G>A ENSP00000457956.1:n.-15-4109G>A
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