Canonical Allele Identifier: CA2631641629
Gene: PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797746-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797746G>C , CM000678.2:g.8797746G>C GRCh38
NC_000016.9:g.8891603G>C , CM000678.1:g.8891603G>C GRCh37
NC_000016.8:g.8799104G>C NCBI36
NG_009209.1:g.4934G>C
NG_033146.1:g.4903C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-137G>C ENSP00000507849.1:n.-137G>C
ENST00000566983.5:c.-15-4053G>C ENSP00000457956.1:n.-15-4053G>C