Canonical Allele Identifier: CA963577

Gene: DPYD

Linked Data

• dbSNP Id: rs750687600
• ExAC: 1:98157320 C / T
• gnomAD v2: 1-98157320-C-T
• gnomAD v4: 1-97691764-C-T
• MyVariant Identifiers: chr1:g.98157320C>T (hg19) ; chr1:g.97691764C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97691764C>T , CM000663.2:g.97691764C>T	GRCh38
NC_000001.10:g.98157320C>T , CM000663.1:g.98157320C>T	GRCh37
NC_000001.9:g.97929908C>T	NCBI36
NG_008807.2:g.234296G>A , LRG_722:g.234296G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.715G>A MANE Select	ENSP00000359211.3:p.Asp239Asn
ENST00000370192.7:c.715G>A	ENSP00000359211.3:p.Asp239Asn
ENST00000474241.1:n.479G>A
NM_000110.3:c.715G>A , LRG_722t1:c.715G>A	NP_000101.2:p.Asp239Asn
XM_005270562.3:c.715G>A	XP_005270619.2:p.Asp239Asn
XM_006710397.2:c.715G>A	XP_006710460.1:p.Asp239Asn
XM_006710397.3:c.715G>A	XP_006710460.1:p.Asp239Asn
XM_017000507.1:c.604G>A	XP_016855996.1:p.Asp202Asn
XM_017000508.2:c.220G>A	XP_016855997.1:p.Asp74Asn
XM_017000509.2:c.220G>A	XP_016855998.1:p.Asp74Asn
XM_017000510.1:c.220G>A	XP_016855999.1:p.Asp74Asn
NM_000110.4:c.715G>A MANE Select	NP_000101.2:p.Asp239Asn