Canonical Allele Identifier: CA1807671260
Gene: DPYS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104379161G= , CM000670.2:g.104379161G= GRCh38
NC_000008.10:g.105391389G= , CM000670.1:g.105391389G= GRCh37
NC_000008.9:g.105460565G= NCBI36
NG_008840.1:g.92889C=
NG_008840.2:g.92889C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000521601.1:n.328+2023C=