Canonical Allele Identifier: CA963742
Gene: DPYD HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.97740439G>C
GRCh37 chr1:g.98205995G>C
Revel Score:
ENST00000370192 (MANE Select) 0.972
ENST00000423006 0.972
ENST00000306031 0.972
gnomAD v2:
1:98205995 G / C
gnomAD v3:
1:97740439 G / C
gnomAD v4:
chr1-97740439-G-C
Joint Max Group AF 0.00013338 (NFE)
Genomes Max Group AF 0.0000905 (NFE)
Exomes Max Group AF 0.00013248 (NFE)
ClinVar RCV:
RCV000991926
RCV002488088
ClinVar Variation:
804763
dbSNP:
143986398
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97740439G>C , CM000663.2:g.97740439G>C GRCh38
NC_000001.10:g.98205995G>C , CM000663.1:g.98205995G>C GRCh37
NC_000001.9:g.97978583G>C NCBI36
NG_008807.2:g.185621C>G , LRG_722:g.185621C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370192.8:c.274C>G MANE Select ENSP00000359211.3:p.Pro92Ala
ENST00000306031.5:c.274C>G ENSP00000307107.5:p.Pro92Ala
ENST00000370192.7:c.274C>G ENSP00000359211.3:p.Pro92Ala
NM_000110.3:c.274C>G , LRG_722t1:c.274C>G NP_000101.2:p.Pro92Ala
NM_001160301.1:c.274C>G , LRG_722t2:c.274C>G NP_001153773.1:p.Pro92Ala
XM_005270562.3:c.274C>G XP_005270619.2:p.Pro92Ala
XM_006710397.2:c.274C>G XP_006710460.1:p.Pro92Ala
XM_006710397.3:c.274C>G XP_006710460.1:p.Pro92Ala
XM_017000507.1:c.163C>G XP_016855996.1:p.Pro55Ala
XM_017000508.2:c.-437C>G XP_016855997.1:n.-437C>G
XM_017000509.2:c.-335C>G XP_016855998.1:n.-335C>G
XM_017000510.1:c.-335C>G XP_016855999.1:n.-335C>G
XR_001737014.1:n.411C>G
NM_000110.4:c.274C>G MANE Select NP_000101.2:p.Pro92Ala
Search 100 bp 5'
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