Canonical Allele Identifier: CA207454

Gene: DLG3 DLG3-AS1

Linked Data

• ClinVar Variation Id: 210848
• ClinVar RCV Id: RCV000193753
• dbSNP Id: rs797045524
• gnomAD v4: X-70453733-C-T
• MyVariant Identifiers: chrX:g.69673583C>T (hg19) ; chrX:g.70453733C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70453733C>T , CM000685.2:g.70453733C>T	GRCh38
NC_000023.10:g.69673583C>T , CM000685.1:g.69673583C>T	GRCh37
NC_000023.9:g.69590308C>T	NCBI36
NG_015849.1:g.13879C>T
NG_015849.2:g.13879C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374355.8:c.231C>T (DLG3)	ENSP00000363475.3:p.Ile77=
ENST00000374360.8:c.1242C>T (DLG3) MANE Select	ENSP00000363480.3:p.Ile414=
ENST00000194900.8:c.1296C>T (DLG3)	ENSP00000194900.4:p.Ile432=
ENST00000374355.7:c.231C>T (DLG3)	ENSP00000363475.3:p.Ile77=
ENST00000374360.7:c.1242C>T (DLG3)	ENSP00000363480.3:p.Ile414=
ENST00000463252.5:n.1641C>T (DLG3)
NM_020730.2:c.231C>T (DLG3)	NP_065781.1:p.Ile77=
NM_021120.3:c.1242C>T (DLG3)	NP_066943.2:p.Ile414=
NR_046586.1:n.84-427G>A (DLG3-AS1)
NR_109801.1:n.51-427G>A (DLG3-AS1)
XM_005262248.2:c.-208C>T (DLG3)	XP_005262305.1:n.-208C>T
XM_006724625.2:c.1242C>T (DLG3)	XP_006724688.1:p.Ile414=
XM_006724626.2:c.1242C>T (DLG3)	XP_006724689.1:p.Ile414=
XM_011530883.1:c.1242C>T (DLG3)	XP_011529185.1:p.Ile414=
XM_005262248.4:c.-208C>T (DLG3)	XP_005262305.1:n.-208C>T
XM_017029322.2:c.231C>T (DLG3)	XP_016884811.1:p.Ile77=
XM_017029323.2:c.231C>T (DLG3)	XP_016884812.1:p.Ile77=
XM_017029324.2:c.231C>T (DLG3)	XP_016884813.1:p.Ile77=
NM_021120.4:c.1242C>T (DLG3) MANE Select	NP_066943.2:p.Ile414=
NM_020730.3:c.231C>T (DLG3)	NP_065781.1:p.Ile77=