Canonical Allele Identifier: CA4434637

Gene: DLD

Linked Data

• dbSNP Id: rs554282866
• ExAC: 7:107557850 T / G
• gnomAD v2: 7-107557850-T-G
• gnomAD v3: 7-107917405-T-G
• gnomAD v4: 7-107917405-T-G
• MyVariant Identifiers: chr7:g.107557850T>G (hg19) ; chr7:g.107917405T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000205402.10:c.1179T>G MANE Select	ENSP00000205402.3:p.Ile393Met
ENST00000205402.9:c.1179T>G	ENSP00000205402.3:p.Ile393Met
ENST00000415325.5:c.*853T>G	ENSP00000402593.1:n.*853T>G
ENST00000417551.5:c.1179T>G	ENSP00000390667.1:p.Ile393Met
ENST00000437604.6:c.1035T>G	ENSP00000387542.2:p.Ile345Met
ENST00000440410.5:c.1110T>G	ENSP00000417016.1:p.Ile370Met
NM_000108.4:c.1179T>G	NP_000099.2:p.Ile393Met
NM_001289750.1:c.882T>G	NP_001276679.1:p.Ile294Met
NM_001289751.1:c.1110T>G	NP_001276680.1:p.Ile370Met
NM_001289752.1:c.1035T>G	NP_001276681.1:p.Ile345Met
NM_000108.5:c.1179T>G MANE Select	NP_000099.2:p.Ile393Met