Canonical Allele Identifier: CA16061623

Gene: DPYD

Linked Data

• ClinVar Variation Id: 1239321
• ClinVar RCV Id: RCV001636229
• dbSNP Id: rs2786525
• gnomAD v2: 1-98014940-C-A
• gnomAD v3: 1-97549384-C-A
• gnomAD v4: 1-97549384-C-A
• MyVariant Identifiers: chr1:g.98014940C>A (hg19) ; chr1:g.97549384C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97549384C>A , CM000663.2:g.97549384C>A	GRCh38
NC_000001.10:g.98014940C>A , CM000663.1:g.98014940C>A	GRCh37
NC_000001.9:g.97787528C>A	NCBI36
NG_008807.2:g.376676G>T , LRG_722:g.376676G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.1524+176G>T MANE Select	ENSP00000359211.3:n.1524+176G>T
ENST00000370192.7:c.1524+176G>T	ENSP00000359211.3:n.1524+176G>T
NM_000110.3:c.1524+176G>T , LRG_722t1:c.1524+176G>T	NP_000101.2:n.1524+176G>T
XM_005270562.3:c.1524+176G>T	XP_005270619.2:n.1524+176G>T
XM_006710397.2:c.1524+176G>T	XP_006710460.1:n.1524+176G>T
XM_006710397.3:c.1524+176G>T	XP_006710460.1:n.1524+176G>T
XM_017000507.1:c.1413+176G>T	XP_016855996.1:n.1413+176G>T
XM_017000508.2:c.1029+176G>T	XP_016855997.1:n.1029+176G>T
XM_017000509.2:c.1029+176G>T	XP_016855998.1:n.1029+176G>T
XM_017000510.1:c.1029+176G>T	XP_016855999.1:n.1029+176G>T
NM_000110.4:c.1524+176G>T MANE Select	NP_000101.2:n.1524+176G>T