Canonical Allele Identifier: CA4838625

Gene: DPYS

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104466744G>C , CM000670.2:g.104466744G>C	GRCh38
NC_000008.10:g.105478972G>C , CM000670.1:g.105478972G>C	GRCh37
NC_000008.9:g.105548148G>C	NCBI36
NG_008840.1:g.5306C>G
NG_008840.2:g.5306C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001385.3:c.177C>G MANE Select	NP_001376.1:p.Val59=
ENST00000351513.7:c.177C>G MANE Select	ENSP00000276651.2:p.Val59=
NM_001385.2:c.177C>G	NP_001376.1:p.Val59=
ENST00000351513.6:c.177C>G	ENSP00000276651.2:p.Val59=
ENST00000521573.2:c.177C>G	ENSP00000430246.2:p.Val59=
XM_005250818.2:c.177C>G	XP_005250875.1:p.Val59=
XM_005250818.3:c.177C>G	XP_005250875.1:p.Val59=
XM_006716518.2:c.177C>G	XP_006716581.1:p.Val59=
XM_006716518.3:c.177C>G	XP_006716581.1:p.Val59=
XM_011516903.1:c.177C>G	XP_011515205.1:p.Val59=
XM_011516903.3:c.177C>G	XP_011515205.1:p.Val59=
XM_011516904.1:c.177C>G	XP_011515206.1:p.Val59=
XM_017013167.2:c.177C>G	XP_016868656.1:p.Val59=
XM_024447087.1:c.177C>G	XP_024302855.1:p.Val59=
XR_001745489.1:n.331C>G
XR_001745490.2:n.331C>G
XR_928507.1:n.112+757G>C
XR_928507.2:n.233+757G>C