Canonical Allele Identifier: CA583938908
Gene: DPYS HGNC NCBI

Linked Data

dbSNP Id: rs1257150575
gnomAD v2: 8-105391362-A-C
gnomAD v3: 8-104379134-A-C
gnomAD v4: 8-104379134-A-C
MyVariant Identifiers: chr8:g.105391362A>C (hg19) chr8:g.104379134A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104379134A>C , CM000670.2:g.104379134A>C GRCh38
NC_000008.10:g.105391362A>C , CM000670.1:g.105391362A>C GRCh37
NC_000008.9:g.105460538A>C NCBI36
NG_008840.1:g.92916T>G
NG_008840.2:g.92916T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000521601.1:n.328+2050T>G
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