Canonical Allele Identifier: CA23117579

Gene: DAB1

Linked Data

• dbSNP Id: rs950328351
• gnomAD v3: 1-57339744-A-G
• gnomAD v4: 1-57339744-A-G
• MyVariant Identifiers: chr1:g.57805416A>G (hg19) ; chr1:g.57339744A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.57339744A>G , CM000663.2:g.57339744A>G	GRCh38
NC_000001.10:g.57805416A>G , CM000663.1:g.57805416A>G	GRCh37
NC_000001.9:g.57578004A>G	NCBI36
NG_046914.2:g.915804T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371236.7:c.-136-48578T>C MANE Select	ENSP00000360280.1:n.-136-48578T>C
ENST00000371230.1:c.-136-48578T>C	ENSP00000360274.1:n.-136-48578T>C
ENST00000371236.6:c.-136-48578T>C	ENSP00000360280.1:n.-136-48578T>C
ENST00000485760.5:n.626-48578T>C
NM_021080.3:c.-136-48578T>C	NP_066566.3:n.-136-48578T>C
NM_001353980.1:c.-136-48578T>C	NP_001340909.1:n.-136-48578T>C
NM_001353983.1:c.-136-48578T>C	NP_001340912.1:n.-136-48578T>C
NM_001353985.1:c.-136-48578T>C	NP_001340914.1:n.-136-48578T>C
NM_001353986.1:c.-136-48578T>C	NP_001340915.1:n.-136-48578T>C
NM_001365792.1:c.-136-48578T>C MANE Select	NP_001352721.1:n.-136-48578T>C
NM_001365793.1:c.-136-48578T>C	NP_001352722.1:n.-136-48578T>C
NM_001365794.1:c.-136-48578T>C	NP_001352723.1:n.-136-48578T>C
NM_001365795.1:c.-136-48578T>C	NP_001352724.1:n.-136-48578T>C
NM_001365796.1:c.-136-48578T>C	NP_001352725.1:n.-136-48578T>C
NM_021080.4:c.-136-48578T>C	NP_066566.3:n.-136-48578T>C
NM_001353985.2:c.-136-48578T>C	NP_001340914.1:n.-136-48578T>C
NM_001353986.2:c.-136-48578T>C	NP_001340915.1:n.-136-48578T>C
NM_021080.5:c.-136-48578T>C	NP_066566.3:n.-136-48578T>C
NM_001353980.2:c.-136-48578T>C	NP_001340909.1:n.-136-48578T>C
NM_001353983.2:c.-136-48578T>C	NP_001340912.1:n.-136-48578T>C
NM_001365794.2:c.-136-48578T>C	NP_001352723.1:n.-136-48578T>C
NM_001365795.2:c.-136-48578T>C	NP_001352724.1:n.-136-48578T>C
NM_001379461.1:c.-136-48578T>C	NP_001366390.1:n.-136-48578T>C
NM_001379462.1:c.-136-48578T>C	NP_001366391.1:n.-136-48578T>C