Canonical Allele Identifier: CA368859686

Gene: DLD

Linked Data

• gnomAD v4: 7-107919244-A-C
• MyVariant Identifiers: chr7:g.107559689A>C (hg19) ; chr7:g.107919244A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107919244A>C , CM000669.2:g.107919244A>C	GRCh38
NC_000007.13:g.107559689A>C , CM000669.1:g.107559689A>C	GRCh37
NC_000007.12:g.107346925A>C	NCBI36
NG_008045.1:g.33104A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000205402.10:c.1515A>C MANE Select	ENSP00000205402.3:p.Lys505Asn
ENST00000205402.9:c.1515A>C	ENSP00000205402.3:p.Lys505Asn
ENST00000415325.5:c.*1189A>C	ENSP00000402593.1:n.*1189A>C
ENST00000417551.5:c.1515A>C	ENSP00000390667.1:p.Lys505Asn
ENST00000437604.6:c.1371A>C	ENSP00000387542.2:p.Lys457Asn
ENST00000440410.5:c.1446A>C	ENSP00000417016.1:p.Lys482Asn
NM_000108.4:c.1515A>C	NP_000099.2:p.Lys505Asn
NM_001289750.1:c.1218A>C	NP_001276679.1:p.Lys406Asn
NM_001289751.1:c.1446A>C	NP_001276680.1:p.Lys482Asn
NM_001289752.1:c.1371A>C	NP_001276681.1:p.Lys457Asn
NM_000108.5:c.1515A>C MANE Select	NP_000099.2:p.Lys505Asn