Canonical Allele Identifier: CA457109499

Gene: DLD

Linked Data

• ClinVar Variation Id: 2044713
• ClinVar RCV Id: RCV002900333
• gnomAD v4: 7-107917405-T-C
• MyVariant Identifiers: chr7:g.107557850T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107917405T>C , CM000669.2:g.107917405T>C	GRCh38
NC_000007.13:g.107557850T>C , CM000669.1:g.107557850T>C	GRCh37
NC_000007.12:g.107345086T>C	NCBI36
NG_008045.1:g.31265T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000205402.10:c.1179T>C MANE Select	ENSP00000205402.3:p.Ile393=
ENST00000205402.9:c.1179T>C	ENSP00000205402.3:p.Ile393=
ENST00000415325.5:c.*853T>C	ENSP00000402593.1:n.*853T>C
ENST00000417551.5:c.1179T>C	ENSP00000390667.1:p.Ile393=
ENST00000437604.6:c.1035T>C	ENSP00000387542.2:p.Ile345=
ENST00000440410.5:c.1110T>C	ENSP00000417016.1:p.Ile370=
NM_000108.4:c.1179T>C	NP_000099.2:p.Ile393=
NM_001289750.1:c.882T>C	NP_001276679.1:p.Ile294=
NM_001289751.1:c.1110T>C	NP_001276680.1:p.Ile370=
NM_001289752.1:c.1035T>C	NP_001276681.1:p.Ile345=
NM_000108.5:c.1179T>C MANE Select	NP_000099.2:p.Ile393=