Canonical Allele Identifier: CA725520832

Gene: PMM2

Linked Data

• dbSNP Id: rs867355908
• gnomAD v4: 16-8797699-G-C
• MyVariant Identifiers: chr16:g.8891556G>C (hg19) ; chr16:g.8797699G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797699G>C , CM000678.2:g.8797699G>C	GRCh38
NC_000016.9:g.8891556G>C , CM000678.1:g.8891556G>C	GRCh37
NC_000016.8:g.8799057G>C	NCBI36
NG_009209.1:g.4887G>C
NG_033146.1:g.4950C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000566983.5:c.-15-4100G>C	ENSP00000457956.1:n.-15-4100G>C