Canonical Allele Identifier: CA2206128143
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs1596481668
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797711A>C , CM000678.2:g.8797711A>C GRCh38
NC_000016.9:g.8891568A>C , CM000678.1:g.8891568A>C GRCh37
NC_000016.8:g.8799069A>C NCBI36
NG_009209.1:g.4899A>C
NG_033146.1:g.4938T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4088A>C ENSP00000457956.1:n.-15-4088A>C
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Search 100 bp 3'