Canonical Allele Identifier: CA402471751

Gene: DCC

Linked Data

• gnomAD v4: 18-53386133-T-A
• MyVariant Identifiers: chr18:g.50912503T>A (hg19) ; chr18:g.53386133T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.53386133T>A , CM000680.2:g.53386133T>A	GRCh38
NC_000018.9:g.50912503T>A , CM000680.1:g.50912503T>A	GRCh37
NC_000018.8:g.49166501T>A	NCBI36
NG_013341.1:g.1050962T>A
NG_013341.2:g.1050962T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442544.7:c.2450T>A MANE Select	ENSP00000389140.2:p.Ile817Lys
ENST00000304775.12:c.2251T>A
ENST00000412726.5:c.2381T>A	ENSP00000397322.2:p.Ile794Lys
ENST00000442544.6:c.2450T>A	ENSP00000389140.2:p.Ile817Lys
ENST00000581580.5:c.1415T>A	ENSP00000464582.1:p.Ile472Lys
NM_005215.3:c.2450T>A	NP_005206.2:p.Ile817Lys
XM_011525843.1:c.2450T>A	XP_011524145.1:p.Ile817Lys
XM_011525844.1:c.1415T>A	XP_011524146.1:p.Ile472Lys
XM_011525845.1:c.2450T>A	XP_011524147.1:p.Ile817Lys
XM_011525846.1:c.2450T>A	XP_011524148.1:p.Ile817Lys
XM_011525844.2:c.1415T>A	XP_011524146.1:p.Ile472Lys
XM_017025568.1:c.2450T>A	XP_016881057.1:p.Ile817Lys
XM_017025569.1:c.2450T>A	XP_016881058.1:p.Ile817Lys
XM_017025570.1:c.1415T>A	XP_016881059.1:p.Ile472Lys
NM_005215.4:c.2450T>A MANE Select	NP_005206.2:p.Ile817Lys