Canonical Allele Identifier: CA233896

Gene: DDOST

Linked Data

• ClinVar Variation Id: 166992
• ClinVar RCV Id: RCV000153147 ; RCV001081304 ; RCV003975199
• dbSNP Id: rs145940009
• ExAC: 1:20979136 G / A
• gnomAD v2: 1-20979136-G-A
• gnomAD v3: 1-20652643-G-A
• gnomAD v4: 1-20652643-G-A
• MyVariant Identifiers: chr1:g.20979136G>A (hg19) ; chr1:g.20652643G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.20652643G>A , CM000663.2:g.20652643G>A	GRCh38
NC_000001.10:g.20979136G>A , CM000663.1:g.20979136G>A	GRCh37
NC_000001.9:g.20851723G>A	NCBI36
NG_008164.1:g.24189G>A
NG_032064.1:g.13902C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602624.7:c.1148C>T MANE Select	ENSP00000473655.2:p.Thr383Ile
ENST00000375048.7:c.1199C>T	ENSP00000364188.3:p.Thr400Ile
ENST00000415136.6:c.1199C>T	ENSP00000399457.3:p.Thr400Ile
ENST00000475210.1:n.319C>T
ENST00000602624.6:c.1148C>T	ENSP00000473655.1:p.Thr383Ile
NM_005216.4:c.1199C>T	NP_005207.2:p.Thr400Ile
NM_005216.5:c.1148C>T MANE Select	NP_005207.3:p.Thr383Ile