Canonical Allele Identifier: CA725520837
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs1307669751
gnomAD v4: 16-8797724-C-A
MyVariant Identifiers: chr16:g.8891581C>A (hg19) chr16:g.8797724C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797724C>A , CM000678.2:g.8797724C>A GRCh38
NC_000016.9:g.8891581C>A , CM000678.1:g.8891581C>A GRCh37
NC_000016.8:g.8799082C>A NCBI36
NG_009209.1:g.4912C>A
NG_033146.1:g.4925G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-159C>A ENSP00000507849.1:n.-159C>A
ENST00000566983.5:c.-15-4075C>A ENSP00000457956.1:n.-15-4075C>A
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