Canonical Allele Identifier: CA16043641

Gene: DLG3

Linked Data

• ClinVar Variation Id: 374247
• ClinVar RCV Id: RCV000415247
• dbSNP Id: rs1057519008
• COSMIC: COSM1124501 ; COSM1599720
• MyVariant Identifiers: chrX:g.69699063G>A (hg19) ; chrX:g.70479213G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70479213G>A , CM000685.2:g.70479213G>A	GRCh38
NC_000023.10:g.69699063G>A , CM000685.1:g.69699063G>A	GRCh37
NC_000023.9:g.69615788G>A	NCBI36
NG_015849.1:g.39359G>A
NG_015849.2:g.39359G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374355.8:c.458G>A	ENSP00000363475.3:p.Ser153Asn
ENST00000374360.8:c.1469G>A MANE Select	ENSP00000363480.3:p.Ser490Asn
ENST00000194900.8:c.1523G>A	ENSP00000194900.4:p.Ser508Asn
ENST00000374355.7:c.458G>A	ENSP00000363475.3:p.Ser153Asn
ENST00000374360.7:c.1469G>A	ENSP00000363480.3:p.Ser490Asn
ENST00000463252.5:n.1868G>A
ENST00000466140.5:n.96G>A
ENST00000489733.5:n.225G>A
ENST00000494493.1:n.537G>A
ENST00000542398.1:c.20G>A	ENSP00000441393.1:p.Ser7Asn
NM_001166278.1:c.20G>A	NP_001159750.1:p.Ser7Asn
NM_020730.2:c.458G>A	NP_065781.1:p.Ser153Asn
NM_021120.3:c.1469G>A	NP_066943.2:p.Ser490Asn
XM_005262248.2:c.20G>A	XP_005262305.1:p.Ser7Asn
XM_006724625.2:c.1469G>A	XP_006724688.1:p.Ser490Asn
XM_006724626.2:c.1469G>A	XP_006724689.1:p.Ser490Asn
XM_011530883.1:c.1469G>A	XP_011529185.1:p.Ser490Asn
XM_005262248.4:c.20G>A	XP_005262305.1:p.Ser7Asn
XM_017029322.2:c.458G>A	XP_016884811.1:p.Ser153Asn
XM_017029323.2:c.458G>A	XP_016884812.1:p.Ser153Asn
XM_017029324.2:c.458G>A	XP_016884813.1:p.Ser153Asn
XM_017029325.2:c.68G>A	XP_016884814.1:p.Ser23Asn
XM_017029326.2:c.20G>A	XP_016884815.1:p.Ser7Asn
XM_017029327.1:c.20G>A	XP_016884816.1:p.Ser7Asn
NM_021120.4:c.1469G>A MANE Select	NP_066943.2:p.Ser490Asn
NM_020730.3:c.458G>A	NP_065781.1:p.Ser153Asn
NM_001166278.2:c.20G>A	NP_001159750.1:p.Ser7Asn