Canonical Allele Identifier: CA341379206

Gene: DPYD

Linked Data

• gnomAD v4: 1-97691730-T-G
• MyVariant Identifiers: chr1:g.98157286T>G (hg19) ; chr1:g.97691730T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97691730T>G , CM000663.2:g.97691730T>G	GRCh38
NC_000001.10:g.98157286T>G , CM000663.1:g.98157286T>G	GRCh37
NC_000001.9:g.97929874T>G	NCBI36
NG_008807.2:g.234330A>C , LRG_722:g.234330A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.749A>C MANE Select	ENSP00000359211.3:p.Asp250Ala
ENST00000370192.7:c.749A>C	ENSP00000359211.3:p.Asp250Ala
ENST00000474241.1:n.513A>C
NM_000110.3:c.749A>C , LRG_722t1:c.749A>C	NP_000101.2:p.Asp250Ala
XM_005270562.3:c.749A>C	XP_005270619.2:p.Asp250Ala
XM_006710397.2:c.749A>C	XP_006710460.1:p.Asp250Ala
XM_006710397.3:c.749A>C	XP_006710460.1:p.Asp250Ala
XM_017000507.1:c.638A>C	XP_016855996.1:p.Asp213Ala
XM_017000508.2:c.254A>C	XP_016855997.1:p.Asp85Ala
XM_017000509.2:c.254A>C	XP_016855998.1:p.Asp85Ala
XM_017000510.1:c.254A>C	XP_016855999.1:p.Asp85Ala
NM_000110.4:c.749A>C MANE Select	NP_000101.2:p.Asp250Ala