Canonical Allele Identifier: CA1807671270
Gene: DPYS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104379178G= , CM000670.2:g.104379178G= GRCh38
NC_000008.10:g.105391406G= , CM000670.1:g.105391406G= GRCh37
NC_000008.9:g.105460582G= NCBI36
NG_008840.1:g.92872C=
NG_008840.2:g.92872C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000521601.1:n.328+2006C=