Canonical Allele Identifier: CA2598512579
Gene: DAB1 HGNC NCBI

Linked Data

dbSNP Id: rs2100824413
gnomAD v3: 1-57339922-C-T
gnomAD v4: 1-57339922-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.57339922C>T , CM000663.2:g.57339922C>T GRCh38
NC_000001.10:g.57805594C>T , CM000663.1:g.57805594C>T GRCh37
NC_000001.9:g.57578182C>T NCBI36
NG_046914.2:g.915626G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371236.7:c.-136-48756G>A MANE Select ENSP00000360280.1:n.-136-48756G>A
ENST00000371230.1:c.-136-48756G>A ENSP00000360274.1:n.-136-48756G>A
ENST00000371236.6:c.-136-48756G>A ENSP00000360280.1:n.-136-48756G>A
ENST00000485760.5:n.626-48756G>A
NM_021080.3:c.-136-48756G>A NP_066566.3:n.-136-48756G>A
NM_001353980.1:c.-136-48756G>A NP_001340909.1:n.-136-48756G>A
NM_001353983.1:c.-136-48756G>A NP_001340912.1:n.-136-48756G>A
NM_001353985.1:c.-136-48756G>A NP_001340914.1:n.-136-48756G>A
NM_001353986.1:c.-136-48756G>A NP_001340915.1:n.-136-48756G>A
NM_001365792.1:c.-136-48756G>A MANE Select NP_001352721.1:n.-136-48756G>A
NM_001365793.1:c.-136-48756G>A NP_001352722.1:n.-136-48756G>A
NM_001365794.1:c.-136-48756G>A NP_001352723.1:n.-136-48756G>A
NM_001365795.1:c.-136-48756G>A NP_001352724.1:n.-136-48756G>A
NM_001365796.1:c.-136-48756G>A NP_001352725.1:n.-136-48756G>A
NM_021080.4:c.-136-48756G>A NP_066566.3:n.-136-48756G>A
NM_001353985.2:c.-136-48756G>A NP_001340914.1:n.-136-48756G>A
NM_001353986.2:c.-136-48756G>A NP_001340915.1:n.-136-48756G>A
NM_021080.5:c.-136-48756G>A NP_066566.3:n.-136-48756G>A
NM_001353980.2:c.-136-48756G>A NP_001340909.1:n.-136-48756G>A
NM_001353983.2:c.-136-48756G>A NP_001340912.1:n.-136-48756G>A
NM_001365794.2:c.-136-48756G>A NP_001352723.1:n.-136-48756G>A
NM_001365795.2:c.-136-48756G>A NP_001352724.1:n.-136-48756G>A
NM_001379461.1:c.-136-48756G>A NP_001366390.1:n.-136-48756G>A
NM_001379462.1:c.-136-48756G>A NP_001366391.1:n.-136-48756G>A