Canonical Allele Identifier: CA312464

Gene: DLD

Linked Data

• ClinVar Variation Id: 203680
• ClinVar RCV Id: RCV000185855 ; RCV000298315 ; RCV000408335 ; RCV001086796
• dbSNP Id: rs533405046
• ExAC: 7:107556029 A / C
• gnomAD v2: 7-107556029-A-C
• gnomAD v3: 7-107915584-A-C
• gnomAD v4: 7-107915584-A-C
• MyVariant Identifiers: chr7:g.107556029A>C (hg19) ; chr7:g.107915584A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107915584A>C , CM000669.2:g.107915584A>C	GRCh38
NC_000007.13:g.107556029A>C , CM000669.1:g.107556029A>C	GRCh37
NC_000007.12:g.107343265A>C	NCBI36
NG_008045.1:g.29444A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205402.10:c.763A>C MANE Select	ENSP00000205402.3:p.Met255Leu
ENST00000205402.9:c.763A>C	ENSP00000205402.3:p.Met255Leu
ENST00000415325.5:c.*437A>C	ENSP00000402593.1:n.*437A>C
ENST00000417551.5:c.763A>C	ENSP00000390667.1:p.Met255Leu
ENST00000437604.6:c.619A>C	ENSP00000387542.2:p.Met207Leu
ENST00000440410.5:c.694A>C	ENSP00000417016.1:p.Met232Leu
ENST00000451081.5:c.*506A>C	ENSP00000388077.1:n.*506A>C
NM_000108.4:c.763A>C	NP_000099.2:p.Met255Leu
NM_001289750.1:c.466A>C	NP_001276679.1:p.Met156Leu
NM_001289751.1:c.694A>C	NP_001276680.1:p.Met232Leu
NM_001289752.1:c.619A>C	NP_001276681.1:p.Met207Leu
NM_000108.5:c.763A>C MANE Select	NP_000099.2:p.Met255Leu