Canonical Allele Identifier: CA2805787360

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797734A>C , CM000678.2:g.8797734A>C	GRCh38
NC_000016.9:g.8891591A>C , CM000678.1:g.8891591A>C	GRCh37
NC_000016.8:g.8799092A>C	NCBI36
NG_009209.1:g.4922A>C
NG_033146.1:g.4915T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.-149A>C	ENSP00000507849.1:n.-149A>C
ENST00000566983.5:c.-15-4065A>C	ENSP00000457956.1:n.-15-4065A>C