Canonical Allele Identifier: CA8966559

Gene: DCC

Linked Data

• dbSNP Id: rs781294118
• ExAC: 18:50432512 A / G
• gnomAD v2: 18-50432512-A-G
• gnomAD v3: 18-52906142-A-G
• gnomAD v4: 18-52906142-A-G
• MyVariant Identifiers: chr18:g.50432512A>G (hg19) ; chr18:g.52906142A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.52906142A>G , CM000680.2:g.52906142A>G	GRCh38
NC_000018.9:g.50432512A>G , CM000680.1:g.50432512A>G	GRCh37
NC_000018.8:g.48686510A>G	NCBI36
NG_013341.1:g.570971A>G
NG_013341.2:g.570971A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000442544.7:c.511A>G MANE Select	ENSP00000389140.2:p.Ile171Val
ENST00000304775.12:c.312A>G
ENST00000412726.5:c.442A>G	ENSP00000397322.2:p.Ile148Val
ENST00000442544.6:c.511A>G	ENSP00000389140.2:p.Ile171Val
ENST00000579349.1:c.432A>G
ENST00000580024.1:n.424A>G
ENST00000581559.1:c.432A>G	ENSP00000463463.1:n.432A>G
NM_005215.3:c.511A>G	NP_005206.2:p.Ile171Val
XM_011525843.1:c.511A>G	XP_011524145.1:p.Ile171Val
XM_011525845.1:c.511A>G	XP_011524147.1:p.Ile171Val
XM_011525846.1:c.511A>G	XP_011524148.1:p.Ile171Val
XM_017025568.1:c.511A>G	XP_016881057.1:p.Ile171Val
XM_017025569.1:c.511A>G	XP_016881058.1:p.Ile171Val
NM_005215.4:c.511A>G MANE Select	NP_005206.2:p.Ile171Val