Canonical Allele Identifier: CA2602932136
Gene: DPYS HGNC NCBI

Linked Data

dbSNP Id: rs991971989
gnomAD v3: 8-104379148-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104379148T>G , CM000670.2:g.104379148T>G GRCh38
NC_000008.10:g.105391376T>G , CM000670.1:g.105391376T>G GRCh37
NC_000008.9:g.105460552T>G NCBI36
NG_008840.1:g.92902A>C
NG_008840.2:g.92902A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000521601.1:n.328+2036A>C
Search 100 bp 5'
Search 100 bp 3'