Canonical Allele Identifier: CA2554808196
Gene: DPYS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104379408C>A , CM000670.2:g.104379408C>A GRCh38
NC_000008.10:g.105391636C>A , CM000670.1:g.105391636C>A GRCh37
NC_000008.9:g.105460812C>A NCBI36
NG_008840.1:g.92642G>T
NG_008840.2:g.92642G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000521601.1:n.328+1776G>T