Canonical Allele Identifier: CA300657950

Gene: DCC

Linked Data

• dbSNP Id: rs868090609
• gnomAD v2: 18-50432485-G-A
• gnomAD v3: 18-52906115-G-A
• gnomAD v4: 18-52906115-G-A
• MyVariant Identifiers: chr18:g.50432485G>A (hg19) ; chr18:g.52906115G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.52906115G>A , CM000680.2:g.52906115G>A	GRCh38
NC_000018.9:g.50432485G>A , CM000680.1:g.50432485G>A	GRCh37
NC_000018.8:g.48686483G>A	NCBI36
NG_013341.1:g.570944G>A
NG_013341.2:g.570944G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442544.7:c.484G>A MANE Select	ENSP00000389140.2:p.Glu162Lys
ENST00000304775.12:c.285G>A
ENST00000412726.5:c.415G>A	ENSP00000397322.2:p.Glu139Lys
ENST00000442544.6:c.484G>A	ENSP00000389140.2:p.Glu162Lys
ENST00000579349.1:c.405G>A
ENST00000580024.1:n.397G>A
ENST00000581559.1:c.405G>A	ENSP00000463463.1:n.405G>A
NM_005215.3:c.484G>A	NP_005206.2:p.Glu162Lys
XM_011525843.1:c.484G>A	XP_011524145.1:p.Glu162Lys
XM_011525845.1:c.484G>A	XP_011524147.1:p.Glu162Lys
XM_011525846.1:c.484G>A	XP_011524148.1:p.Glu162Lys
XM_017025568.1:c.484G>A	XP_016881057.1:p.Glu162Lys
XM_017025569.1:c.484G>A	XP_016881058.1:p.Glu162Lys
NM_005215.4:c.484G>A MANE Select	NP_005206.2:p.Glu162Lys