Canonical Allele Identifier: CA402513545

Gene: DCC

Linked Data

• dbSNP Id: rs1180487584
• gnomAD v2: 18-50432453-C-T
• gnomAD v3: 18-52906083-C-T
• gnomAD v4: 18-52906083-C-T
• MyVariant Identifiers: chr18:g.50432453C>T (hg19) ; chr18:g.52906083C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.52906083C>T , CM000680.2:g.52906083C>T	GRCh38
NC_000018.9:g.50432453C>T , CM000680.1:g.50432453C>T	GRCh37
NC_000018.8:g.48686451C>T	NCBI36
NG_013341.1:g.570912C>T
NG_013341.2:g.570912C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442544.7:c.452C>T MANE Select	ENSP00000389140.2:p.Ala151Val
ENST00000304775.12:c.253C>T
ENST00000412726.5:c.383C>T	ENSP00000397322.2:p.Ala128Val
ENST00000442544.6:c.452C>T	ENSP00000389140.2:p.Ala151Val
ENST00000579349.1:c.373C>T
ENST00000580024.1:n.365C>T
ENST00000581559.1:c.373C>T	ENSP00000463463.1:n.373C>T
NM_005215.3:c.452C>T	NP_005206.2:p.Ala151Val
XM_011525843.1:c.452C>T	XP_011524145.1:p.Ala151Val
XM_011525845.1:c.452C>T	XP_011524147.1:p.Ala151Val
XM_011525846.1:c.452C>T	XP_011524148.1:p.Ala151Val
XM_017025568.1:c.452C>T	XP_016881057.1:p.Ala151Val
XM_017025569.1:c.452C>T	XP_016881058.1:p.Ala151Val
NM_005215.4:c.452C>T MANE Select	NP_005206.2:p.Ala151Val