Canonical Allele Identifier: CA2631641657
Gene: PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797762-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797762A>C , CM000678.2:g.8797762A>C GRCh38
NC_000016.9:g.8891619A>C , CM000678.1:g.8891619A>C GRCh37
NC_000016.8:g.8799120A>C NCBI36
NG_009209.1:g.4950A>C
NG_033146.1:g.4887T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-121A>C ENSP00000507849.1:n.-121A>C
ENST00000566983.5:c.-15-4037A>C ENSP00000457956.1:n.-15-4037A>C
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