Canonical Allele Identifier: CA341376052

Gene: DPYD

Linked Data

• dbSNP Id: rs1676328873
• gnomAD v4: 1-97450126-A-T
• MyVariant Identifiers: chr1:g.97915682A>T (hg19) ; chr1:g.97450126A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97450126A>T , CM000663.2:g.97450126A>T	GRCh38
NC_000001.10:g.97915682A>T , CM000663.1:g.97915682A>T	GRCh37
NC_000001.9:g.97688270A>T	NCBI36
NG_008807.2:g.475934T>A , LRG_722:g.475934T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.1838T>A MANE Select	ENSP00000359211.3:p.Ile613Asn
ENST00000370192.7:c.1838T>A	ENSP00000359211.3:p.Ile613Asn
NM_000110.3:c.1838T>A , LRG_722t1:c.1838T>A	NP_000101.2:p.Ile613Asn
XM_005270562.3:c.1622T>A	XP_005270619.2:p.Ile541Asn
XM_006710397.2:c.1838T>A	XP_006710460.1:p.Ile613Asn
XM_006710397.3:c.1838T>A	XP_006710460.1:p.Ile613Asn
XM_017000507.1:c.1727T>A	XP_016855996.1:p.Ile576Asn
XM_017000508.2:c.1343T>A	XP_016855997.1:p.Ile448Asn
XM_017000509.2:c.1343T>A	XP_016855998.1:p.Ile448Asn
XM_017000510.1:c.1343T>A	XP_016855999.1:p.Ile448Asn
NM_000110.4:c.1838T>A MANE Select	NP_000101.2:p.Ile613Asn