Canonical Allele Identifier: CA368857995

Gene: DLD

Linked Data

• gnomAD v4: 7-107917274-A-G
• MyVariant Identifiers: chr7:g.107557719A>G (hg19) ; chr7:g.107917274A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107917274A>G , CM000669.2:g.107917274A>G	GRCh38
NC_000007.13:g.107557719A>G , CM000669.1:g.107557719A>G	GRCh37
NC_000007.12:g.107344955A>G	NCBI36
NG_008045.1:g.31134A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205402.10:c.1048A>G MANE Select	ENSP00000205402.3:p.Ile350Val
ENST00000205402.9:c.1048A>G	ENSP00000205402.3:p.Ile350Val
ENST00000415325.5:c.*722A>G	ENSP00000402593.1:n.*722A>G
ENST00000417551.5:c.1048A>G	ENSP00000390667.1:p.Ile350Val
ENST00000437604.6:c.904A>G	ENSP00000387542.2:p.Ile302Val
ENST00000440410.5:c.979A>G	ENSP00000417016.1:p.Ile327Val
NM_000108.4:c.1048A>G	NP_000099.2:p.Ile350Val
NM_001289750.1:c.751A>G	NP_001276679.1:p.Ile251Val
NM_001289751.1:c.979A>G	NP_001276680.1:p.Ile327Val
NM_001289752.1:c.904A>G	NP_001276681.1:p.Ile302Val
NM_000108.5:c.1048A>G MANE Select	NP_000099.2:p.Ile350Val