Canonical Allele Identifier: CA402513482

Gene: DCC

Linked Data

• dbSNP Id: rs1271631002
• gnomAD v2: 18-50432424-G-T
• gnomAD v4: 18-52906054-G-T
• MyVariant Identifiers: chr18:g.50432424G>T (hg19) ; chr18:g.52906054G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.52906054G>T , CM000680.2:g.52906054G>T	GRCh38
NC_000018.9:g.50432424G>T , CM000680.1:g.50432424G>T	GRCh37
NC_000018.8:g.48686422G>T	NCBI36
NG_013341.1:g.570883G>T
NG_013341.2:g.570883G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442544.7:c.423G>T MANE Select	ENSP00000389140.2:p.Arg141Ser
ENST00000304775.12:c.224G>T
ENST00000412726.5:c.354G>T	ENSP00000397322.2:p.Arg118Ser
ENST00000442544.6:c.423G>T	ENSP00000389140.2:p.Arg141Ser
ENST00000579349.1:c.344G>T
ENST00000580024.1:n.336G>T
ENST00000581559.1:c.344G>T	ENSP00000463463.1:n.344G>T
NM_005215.3:c.423G>T	NP_005206.2:p.Arg141Ser
XM_011525843.1:c.423G>T	XP_011524145.1:p.Arg141Ser
XM_011525845.1:c.423G>T	XP_011524147.1:p.Arg141Ser
XM_011525846.1:c.423G>T	XP_011524148.1:p.Arg141Ser
XM_017025568.1:c.423G>T	XP_016881057.1:p.Arg141Ser
XM_017025569.1:c.423G>T	XP_016881058.1:p.Arg141Ser
NM_005215.4:c.423G>T MANE Select	NP_005206.2:p.Arg141Ser