Canonical Allele Identifier: CA300657946

Gene: DCC

Linked Data

• dbSNP Id: rs1003130251
• gnomAD v4: 18-52906065-A-C
• MyVariant Identifiers: chr18:g.50432435A>C (hg19) ; chr18:g.52906065A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.52906065A>C , CM000680.2:g.52906065A>C	GRCh38
NC_000018.9:g.50432435A>C , CM000680.1:g.50432435A>C	GRCh37
NC_000018.8:g.48686433A>C	NCBI36
NG_013341.1:g.570894A>C
NG_013341.2:g.570894A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442544.7:c.434A>C MANE Select	ENSP00000389140.2:p.Gln145Pro
ENST00000304775.12:c.235A>C
ENST00000412726.5:c.365A>C	ENSP00000397322.2:p.Gln122Pro
ENST00000442544.6:c.434A>C	ENSP00000389140.2:p.Gln145Pro
ENST00000579349.1:c.355A>C
ENST00000580024.1:n.347A>C
ENST00000581559.1:c.355A>C	ENSP00000463463.1:n.355A>C
NM_005215.3:c.434A>C	NP_005206.2:p.Gln145Pro
XM_011525843.1:c.434A>C	XP_011524145.1:p.Gln145Pro
XM_011525845.1:c.434A>C	XP_011524147.1:p.Gln145Pro
XM_011525846.1:c.434A>C	XP_011524148.1:p.Gln145Pro
XM_017025568.1:c.434A>C	XP_016881057.1:p.Gln145Pro
XM_017025569.1:c.434A>C	XP_016881058.1:p.Gln145Pro
NM_005215.4:c.434A>C MANE Select	NP_005206.2:p.Gln145Pro