Canonical Allele Identifier: CA2688213149
Gene: DPYS HGNC NCBI

Linked Data

gnomAD v4: 8-104379318-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104379318A>G , CM000670.2:g.104379318A>G GRCh38
NC_000008.10:g.105391546A>G , CM000670.1:g.105391546A>G GRCh37
NC_000008.9:g.105460722A>G NCBI36
NG_008840.1:g.92732T>C
NG_008840.2:g.92732T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000521601.1:n.328+1866T>C
Search 100 bp 5'
Search 100 bp 3'