Canonical Allele Identifier: CA620726906

Gene: PMM2

Linked Data

• dbSNP Id: rs1189624270
• gnomAD v2: 16-8891518-C-A
• gnomAD v3: 16-8797661-C-A
• gnomAD v4: 16-8797661-C-A
• MyVariant Identifiers: chr16:g.8891518C>A (hg19) ; chr16:g.8797661C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797661C>A , CM000678.2:g.8797661C>A	GRCh38
NC_000016.9:g.8891518C>A , CM000678.1:g.8891518C>A	GRCh37
NC_000016.8:g.8799019C>A	NCBI36
NG_009209.1:g.4849C>A
NG_033146.1:g.4988G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000566983.5:c.-15-4138C>A	ENSP00000457956.1:n.-15-4138C>A