Canonical Allele Identifier: CA963280

Gene: DPYD

Linked Data

• dbSNP Id: rs755407188
• ExAC: 1:97981356 T / G
• gnomAD v2: 1-97981356-T-G
• gnomAD v3: 1-97515800-T-G
• gnomAD v4: 1-97515800-T-G
• MyVariant Identifiers: chr1:g.97981356T>G (hg19) ; chr1:g.97515800T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97515800T>G , CM000663.2:g.97515800T>G	GRCh38
NC_000001.10:g.97981356T>G , CM000663.1:g.97981356T>G	GRCh37
NC_000001.9:g.97753944T>G	NCBI36
NG_008807.2:g.410260A>C , LRG_722:g.410260A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.1666A>C MANE Select	ENSP00000359211.3:p.Ser556Arg
ENST00000370192.7:c.1666A>C	ENSP00000359211.3:p.Ser556Arg
NM_000110.3:c.1666A>C , LRG_722t1:c.1666A>C	NP_000101.2:p.Ser556Arg
XM_005270562.3:c.1524+33760A>C	XP_005270619.2:n.1524+33760A>C
XM_006710397.2:c.1666A>C	XP_006710460.1:p.Ser556Arg
XM_006710397.3:c.1666A>C	XP_006710460.1:p.Ser556Arg
XM_017000507.1:c.1555A>C	XP_016855996.1:p.Ser519Arg
XM_017000508.2:c.1171A>C	XP_016855997.1:p.Ser391Arg
XM_017000509.2:c.1171A>C	XP_016855998.1:p.Ser391Arg
XM_017000510.1:c.1171A>C	XP_016855999.1:p.Ser391Arg
NM_000110.4:c.1666A>C MANE Select	NP_000101.2:p.Ser556Arg