Canonical Allele Identifier: CA1413686

Gene: DEGS1

Linked Data

• ClinVar Variation Id: 1474900
• ClinVar RCV Id: RCV001973720 ; RCV002573418
• dbSNP Id: rs377178997
• ExAC: 1:224378005 G / C
• gnomAD v2: 1-224378005-G-C
• gnomAD v3: 1-224190303-G-C
• gnomAD v4: 1-224190303-G-C
• MyVariant Identifiers: chr1:g.224378005G>C (hg19) ; chr1:g.224190303G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.224190303G>C , CM000663.2:g.224190303G>C	GRCh38
NC_000001.10:g.224378005G>C , CM000663.1:g.224378005G>C	GRCh37
NC_000001.9:g.222444628G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323699.9:c.809G>C MANE Select	ENSP00000316476.4:p.Gly270Ala
ENST00000323699.8:c.809G>C	ENSP00000316476.4:p.Gly270Ala
ENST00000391877.3:c.809G>C	ENSP00000375749.3:p.Gly270Ala
ENST00000415210.5:c.746G>C	ENSP00000400545.1:p.Gly249Ala
ENST00000498813.1:n.168G>C
NM_003676.3:c.809G>C	NP_003667.1:p.Gly270Ala
XM_011544317.1:c.809G>C	XP_011542619.1:p.Gly270Ala
XM_011544318.1:c.701G>C	XP_011542620.1:p.Gly234Ala
NM_001321541.1:c.809G>C	NP_001308470.1:p.Gly270Ala
NM_001321542.1:c.701G>C	NP_001308471.1:p.Gly234Ala
XM_017002648.2:c.701G>C	XP_016858137.1:p.Gly234Ala
NM_003676.4:c.809G>C MANE Select	NP_003667.1:p.Gly270Ala
NM_001321541.2:c.809G>C	NP_001308470.1:p.Gly270Ala
NM_001321542.2:c.701G>C	NP_001308471.1:p.Gly234Ala