Canonical Allele Identifier: CA524780045

Gene: DPYD

Linked Data

• dbSNP Id: rs1405712090
• gnomAD v2: 1-97822796-G-T
• gnomAD v3: 1-97357240-G-T
• gnomAD v4: 1-97357240-G-T
• MyVariant Identifiers: chr1:g.97822796G>T (hg19) ; chr1:g.97357240G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97357240G>T , CM000663.2:g.97357240G>T	GRCh38
NC_000001.10:g.97822796G>T , CM000663.1:g.97822796G>T	GRCh37
NC_000001.9:g.97595384G>T	NCBI36
NG_008807.2:g.568820C>A , LRG_722:g.568820C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.2058+16321C>A MANE Select	ENSP00000359211.3:n.2058+16321C>A
ENST00000370192.7:c.2058+16321C>A	ENSP00000359211.3:n.2058+16321C>A
NM_000110.3:c.2058+16321C>A , LRG_722t1:c.2058+16321C>A	NP_000101.2:n.2058+16321C>A
XM_005270562.3:c.1842+16321C>A	XP_005270619.2:n.1842+16321C>A
XM_006710397.2:c.2058+16321C>A	XP_006710460.1:n.2058+16321C>A
XR_947619.1:n.921-9758G>T
XR_947620.1:n.921-9758G>T
XR_947621.1:n.921-9758G>T
XM_006710397.3:c.2058+16321C>A	XP_006710460.1:n.2058+16321C>A
XM_017000507.1:c.1947+16321C>A	XP_016855996.1:n.1947+16321C>A
XM_017000508.2:c.1563+16321C>A	XP_016855997.1:n.1563+16321C>A
XM_017000509.2:c.1563+16321C>A	XP_016855998.1:n.1563+16321C>A
XM_017000510.1:c.1563+16321C>A	XP_016855999.1:n.1563+16321C>A
NM_000110.4:c.2058+16321C>A MANE Select	NP_000101.2:n.2058+16321C>A