Canonical Allele Identifier: CA228208

Gene: DPYS

Linked Data

• ClinVar Variation Id: 100137
• ClinVar RCV Id: RCV000086520 ; RCV000278454
• dbSNP Id: rs138453168
• ExAC: 8:105440199 G / A
• gnomAD v2: 8-105440199-G-A
• gnomAD v3: 8-104427971-G-A
• gnomAD v4: 8-104427971-G-A
• MyVariant Identifiers: chr8:g.105440199G>A (hg19) ; chr8:g.104427971G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104427971G>A , CM000670.2:g.104427971G>A	GRCh38
NC_000008.10:g.105440199G>A , CM000670.1:g.105440199G>A	GRCh37
NC_000008.9:g.105509375G>A	NCBI36
NG_008840.1:g.44079C>T
NG_008840.2:g.44079C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351513.7:c.1092+9C>T MANE Select	ENSP00000276651.2:n.1092+9C>T
ENST00000351513.6:c.1092+9C>T	ENSP00000276651.2:n.1092+9C>T
NM_001385.2:c.1092+9C>T	NP_001376.1:n.1092+9C>T
XM_005250818.2:c.1092+9C>T	XP_005250875.1:n.1092+9C>T
XM_006716518.2:c.933+9C>T	XP_006716581.1:n.933+9C>T
XM_011516903.1:c.1092+9C>T	XP_011515205.1:n.1092+9C>T
XM_011516904.1:c.1092+9C>T	XP_011515206.1:n.1092+9C>T
XM_005250818.3:c.1092+9C>T	XP_005250875.1:n.1092+9C>T
XM_006716518.3:c.933+9C>T	XP_006716581.1:n.933+9C>T
XM_011516903.3:c.1092+9C>T	XP_011515205.1:n.1092+9C>T
XM_017013167.2:c.1092+9C>T	XP_016868656.1:n.1092+9C>T
XM_024447087.1:c.1092+9C>T	XP_024302855.1:n.1092+9C>T
XR_001745489.1:n.1246+9C>T
XR_001745490.2:n.1246+9C>T
NM_001385.3:c.1092+9C>T MANE Select	NP_001376.1:n.1092+9C>T