Canonical Allele Identifier: CA2398859

Gene: DAG1

Linked Data

• ClinVar Variation Id: 281825
• ClinVar RCV Id: RCV000724971 ; RCV001085470 ; RCV003930051
• dbSNP Id: rs149218670
• ExAC: 3:49548245 T / C
• gnomAD v2: 3-49548245-T-C
• gnomAD v3: 3-49510812-T-C
• gnomAD v4: 3-49510812-T-C
• MyVariant Identifiers: chr3:g.49548245T>C (hg19) ; chr3:g.49510812T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49510812T>C , CM000665.2:g.49510812T>C	GRCh38
NC_000003.11:g.49548245T>C , CM000665.1:g.49548245T>C	GRCh37
NC_000003.10:g.49523249T>C	NCBI36
NG_013230.3:g.45681T>C
NG_013230.4:g.45681T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000418588.6:c.278T>C	ENSP00000405859.2:p.Ile93Thr
ENST00000421560.6:c.278T>C	ENSP00000412067.2:p.Ile93Thr
ENST00000428779.7:c.278T>C	ENSP00000401382.3:p.Ile93Thr
ENST00000430636.2:c.278T>C	ENSP00000401805.2:p.Ile93Thr
ENST00000431960.6:c.278T>C	ENSP00000388833.2:p.Ile93Thr
ENST00000435508.8:c.278T>C	ENSP00000415321.4:p.Ile93Thr
ENST00000452060.7:c.278T>C	ENSP00000410145.3:p.Ile93Thr
ENST00000452317.6:c.278T>C	ENSP00000387859.2:p.Ile93Thr
ENST00000466701.2:c.278T>C	ENSP00000513216.1:p.Ile93Thr
ENST00000469139.2:c.278T>C	ENSP00000501165.2:p.Ile93Thr
ENST00000496474.2:c.278T>C	ENSP00000513217.1:p.Ile93Thr
ENST00000697271.1:c.278T>C	ENSP00000513218.1:p.Ile93Thr
ENST00000308775.7:c.278T>C MANE Select	ENSP00000312435.2:p.Ile93Thr
ENST00000428779.6:c.278T>C	ENSP00000401382.2:p.Ile93Thr
ENST00000452060.6:c.278T>C	ENSP00000410145.2:p.Ile93Thr
ENST00000673708.1:c.278T>C	ENSP00000501140.1:p.Ile93Thr
ENST00000308775.6:c.278T>C	ENSP00000312435.2:p.Ile93Thr
ENST00000421560.5:c.278T>C	ENSP00000412067.1:p.Ile93Thr
ENST00000428779.5:c.278T>C	ENSP00000401382.1:p.Ile93Thr
ENST00000431960.5:c.278T>C	ENSP00000388833.1:p.Ile93Thr
ENST00000461492.1:n.165+357T>C
ENST00000479935.1:n.589T>C
ENST00000515359.6:c.278T>C	ENSP00000440705.1:p.Ile93Thr
ENST00000538711.5:c.278T>C	ENSP00000438421.1:p.Ile93Thr
ENST00000539901.5:c.278T>C	ENSP00000439334.1:p.Ile93Thr
ENST00000541308.5:c.278T>C	ENSP00000440590.1:p.Ile93Thr
ENST00000545947.5:c.278T>C	ENSP00000442600.1:p.Ile93Thr
NM_001165928.3:c.278T>C	NP_001159400.2:p.Ile93Thr
NM_001177634.2:c.278T>C	NP_001171105.1:p.Ile93Thr
NM_001177635.2:c.278T>C	NP_001171106.1:p.Ile93Thr
NM_001177636.2:c.278T>C	NP_001171107.1:p.Ile93Thr
NM_001177637.2:c.278T>C	NP_001171108.1:p.Ile93Thr
NM_001177638.2:c.278T>C	NP_001171109.1:p.Ile93Thr
NM_001177639.2:c.278T>C	NP_001171110.1:p.Ile93Thr
NM_001177640.2:c.278T>C	NP_001171111.1:p.Ile93Thr
NM_001177641.2:c.278T>C	NP_001171112.1:p.Ile93Thr
NM_001177642.2:c.278T>C	NP_001171113.1:p.Ile93Thr
NM_001177643.2:c.278T>C	NP_001171114.1:p.Ile93Thr
NM_001177644.2:c.278T>C	NP_001171115.1:p.Ile93Thr
NM_004393.5:c.278T>C	NP_004384.4:p.Ile93Thr
NM_004393.6:c.278T>C MANE Select	NP_004384.5:p.Ile93Thr
NM_001165928.4:c.278T>C	NP_001159400.3:p.Ile93Thr
NM_001177634.3:c.278T>C	NP_001171105.2:p.Ile93Thr
NM_001177635.3:c.278T>C	NP_001171106.2:p.Ile93Thr
NM_001177636.3:c.278T>C	NP_001171107.2:p.Ile93Thr
NM_001177637.3:c.278T>C	NP_001171108.2:p.Ile93Thr
NM_001177638.3:c.278T>C	NP_001171109.2:p.Ile93Thr
NM_001177639.3:c.278T>C	NP_001171110.2:p.Ile93Thr
NM_001177640.3:c.278T>C	NP_001171111.2:p.Ile93Thr
NM_001177641.3:c.278T>C	NP_001171112.2:p.Ile93Thr
NM_001177642.3:c.278T>C	NP_001171113.2:p.Ile93Thr
NM_001177643.3:c.278T>C	NP_001171114.2:p.Ile93Thr
NM_001177644.3:c.278T>C	NP_001171115.2:p.Ile93Thr