Canonical Allele Identifier: CA2631641669
Gene: PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797769-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797769C>A , CM000678.2:g.8797769C>A GRCh38
NC_000016.9:g.8891626C>A , CM000678.1:g.8891626C>A GRCh37
NC_000016.8:g.8799127C>A NCBI36
NG_009209.1:g.4957C>A
NG_033146.1:g.4880G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-114C>A ENSP00000507849.1:n.-114C>A
ENST00000566983.5:c.-15-4030C>A ENSP00000457956.1:n.-15-4030C>A
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