Canonical Allele Identifier: CA4434612

Gene: DLD

Linked Data

• dbSNP Id: rs370019697
• ExAC: 7:107557382 A / C
• gnomAD v2: 7-107557382-A-C
• MyVariant Identifiers: chr7:g.107557382A>C (hg19) ; chr7:g.107916937A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107916937A>C , CM000669.2:g.107916937A>C	GRCh38
NC_000007.13:g.107557382A>C , CM000669.1:g.107557382A>C	GRCh37
NC_000007.12:g.107344618A>C	NCBI36
NG_008045.1:g.30797A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205402.10:c.1019A>C MANE Select	ENSP00000205402.3:p.Asn340Thr
ENST00000205402.9:c.1019A>C	ENSP00000205402.3:p.Asn340Thr
ENST00000415325.5:c.*693A>C	ENSP00000402593.1:n.*693A>C
ENST00000417551.5:c.1019A>C	ENSP00000390667.1:p.Asn340Thr
ENST00000437604.6:c.875A>C	ENSP00000387542.2:p.Asn292Thr
ENST00000440410.5:c.950A>C	ENSP00000417016.1:p.Asn317Thr
NM_000108.4:c.1019A>C	NP_000099.2:p.Asn340Thr
NM_001289750.1:c.722A>C	NP_001276679.1:p.Asn241Thr
NM_001289751.1:c.950A>C	NP_001276680.1:p.Asn317Thr
NM_001289752.1:c.875A>C	NP_001276681.1:p.Asn292Thr
NM_000108.5:c.1019A>C MANE Select	NP_000099.2:p.Asn340Thr